Task 5 - Mapping SNPs Canavan
From Bioinformatikpedia
First impression
Protocol
Further information can be found in the protocol.
HGMD
74 (79 in 2012 professional) total for cDNA sequence NM_000049.2 and amino acid sequence NP_000040.1, out of which
- 47 missense/nonsense
- 5 splicing
- 12 small deletions
- 2 small insertions
- 1 indel
- 7 gross deletions
SNPdbe
- 55 total, includes predicted functional effect. 29 of these 55 labelled as involved in Canavan Disease.
dbSNP
- same identifiers for sequence as HGMD
- "synonymous-codon"[Function_Class] AND ASPA[GENE] AND "human"[ORGN] AND "snp"[SNP_CLASS] yields only 9 results
- 505 results for SNPs in general in human
- 458 for NP_000040.1 (coding: 23)
- 493 for NP_001121557.1 (coding: 23)
SNPedia
links to other pages
Coding SNPs
| Residue Position | Identifier | Reference DB | Year | SNP Type | Mutation |
| 114 | , CM960086, CM023014 | SNPDBe, HGMD | - | missense | D114Y |
| 111 | rs28940574 , rs142041344, rs104894551, rs145616193, rs138158568, rs17850703, rs104894553, rs80099330, rs144639820, rs181347986, rs148451498, rs104894548, rs141755746, rs2228435, rs140357187, rs144321760, rs147763700, rs104894549, rs139053885, rs1805136, rs12948217, rs104894550, rs149842031, rs149189911, rs145085349, rs104894552, rs78677072, rs140581464, rs145717248, rs148081446, rs141858640, rs28940279, rs138062143, CM023602, CM060201, CM063846, CM950102, CM960088, CM023604, CM950103, CM994594, CM940123, CM023015, CM990196, CM990197, CM930046, CM940124 | dbSNP, SNPDBe, OMIM, HGMD | - | missense | E305A |
| 281 | rs28940574 , rs142041344, rs104894551, rs145616193, rs138158568, rs17850703, rs104894553, rs80099330, rs144639820, rs181347986, rs148451498, rs104894548, rs141755746, rs2228435, rs140357187, rs144321760, rs147763700, rs104894549, rs139053885, rs1805136, rs12948217, rs104894550, rs149842031, rs149189911, rs145085349, rs104894552, rs78677072, rs140581464, rs145717248, rs148081446, rs141858640, rs28940279, rs138062143, CM023602, CM060201, CM063846, CM950102, CM960088, CM023604, CM950103, CM994594, CM940123, CM023015, CM990196, CM990197, CM930046, CM940124 | dbSNP, SNPDBe, OMIM, HGMD | - | missense | E305A |
| 195 | , CM990195 | SNPDBe, HGMD | - | missense | M195R |
| 280 | rs28940574 , rs142041344, rs104894551, rs145616193, rs138158568, rs17850703, rs104894553, rs80099330, rs144639820, rs181347986, rs148451498, rs104894548, rs141755746, rs2228435, rs140357187, rs144321760, rs147763700, rs104894549, rs139053885, rs1805136, rs12948217, rs104894550, rs149842031, rs149189911, rs145085349, rs104894552, rs78677072, rs140581464, rs145717248, rs148081446, rs141858640, rs28940279, rs138062143, CM023602, CM060201, CM063846, CM950102, CM960088, CM023604, CM950103, CM994594, CM940123, CM023015, CM990196, CM990197, CM930046, CM940124 | dbSNP, SNPDBe, OMIM, HGMD | - | missense | E305A |
| 33 | rs28940574 , rs142041344, rs104894551, rs145616193, rs138158568, rs17850703, rs104894553, rs80099330, rs144639820, rs181347986, rs148451498, rs104894548, rs141755746, rs2228435, rs140357187, rs144321760, rs147763700, rs104894549, rs139053885, rs1805136, rs12948217, rs104894550, rs149842031, rs149189911, rs145085349, rs104894552, rs78677072, rs140581464, rs145717248, rs148081446, rs141858640, rs28940279, rs138062143, CM023602, CM060201, CM063846, CM950102, CM960088, CM023604, CM950103, CM994594, CM940123, CM023015, CM990196, CM990197, CM930046, CM940124 | dbSNP, SNPDBe, OMIM, HGMD | - | missense | E305A |
| 157 | rs28940574 , rs142041344, rs104894551, rs145616193, rs138158568, rs17850703, rs104894553, rs80099330, rs144639820, rs181347986, rs148451498, rs104894548, rs141755746, rs2228435, rs140357187, rs144321760, rs147763700, rs104894549, rs139053885, rs1805136, rs12948217, rs104894550, rs149842031, rs149189911, rs145085349, rs104894552, rs78677072, rs140581464, rs145717248, rs148081446, rs141858640, rs28940279, rs138062143, CM023602, CM060201, CM063846, CM950102, CM960088, CM023604, CM950103, CM994594, CM940123, CM023015, CM990196, CM990197, CM930046, CM940124 | dbSNP, SNPDBe, OMIM, HGMD | - | missense | E305A |
| 285 | rs28940574 , rs142041344, rs104894551, rs145616193, rs138158568, rs17850703, rs104894553, rs80099330, rs144639820, rs181347986, rs148451498, rs104894548, rs141755746, rs2228435, rs140357187, rs144321760, rs147763700, rs104894549, rs139053885, rs1805136, rs12948217, rs104894550, rs149842031, rs149189911, rs145085349, rs104894552, rs78677072, rs140581464, rs145717248, rs148081446, rs141858640, rs28940279, rs138062143, CM023602, CM060201, CM063846, CM950102, CM960088, CM023604, CM950103, CM994594, CM940123, CM023015, CM990196, CM990197, CM930046, CM940124 | dbSNP, SNPDBe, OMIM, HGMD | - | missense | E305A |
| 154 | rs28940574 , rs142041344, rs104894551, rs145616193, rs138158568, rs17850703, rs104894553, rs80099330, rs144639820, rs181347986, rs148451498, rs104894548, rs141755746, rs2228435, rs140357187, rs144321760, rs147763700, rs104894549, rs139053885, rs1805136, rs12948217, rs104894550, rs149842031, rs149189911, rs145085349, rs104894552, rs78677072, rs140581464, rs145717248, rs148081446, rs141858640, rs28940279, rs138062143, CM023602, CM060201, CM063846, CM950102, CM960088, CM023604, CM950103, CM994594, CM940123, CM023015, CM990196, CM990197, CM930046, CM940124 | dbSNP, SNPDBe, OMIM, HGMD | - | missense | E305A |
| 288 | , CM034717 | SNPDBe, HGMD | - | missense | Y288F |
| 152 | rs28940574 , rs142041344, rs104894551, rs145616193, rs138158568, rs17850703, rs104894553, rs80099330, rs144639820, rs181347986, rs148451498, rs104894548, rs141755746, rs2228435, rs140357187, rs144321760, rs147763700, rs104894549, rs139053885, rs1805136, rs12948217, rs104894550, rs149842031, rs149189911, rs145085349, rs104894552, rs78677072, rs140581464, rs145717248, rs148081446, rs141858640, rs28940279, rs138062143, CM023602, CM060201, CM063846, CM950102, CM960088, CM023604, CM950103, CM994594, CM940123, CM023015, CM990196, CM990197, CM930046, CM940124 | dbSNP, SNPDBe, OMIM, HGMD | - | missense | E305A |
| 153 | rs28940574 , rs142041344, rs104894551, rs145616193, rs138158568, rs17850703, rs104894553, rs80099330, rs144639820, rs181347986, rs148451498, rs104894548, rs141755746, rs2228435, rs140357187, rs144321760, rs147763700, rs104894549, rs139053885, rs1805136, rs12948217, rs104894550, rs149842031, rs149189911, rs145085349, rs104894552, rs78677072, rs140581464, rs145717248, rs148081446, rs141858640, rs28940279, rs138062143, CM023602, CM060201, CM063846, CM950102, CM960088, CM023604, CM950103, CM994594, CM940123, CM023015, CM990196, CM990197, CM930046, CM940124 | dbSNP, SNPDBe, OMIM, HGMD | - | missense | E305A |
| 286 | rs28940574 , rs142041344, rs104894551, rs145616193, rs138158568, rs17850703, rs104894553, rs80099330, rs144639820, rs181347986, rs148451498, rs104894548, rs141755746, rs2228435, rs140357187, rs144321760, rs147763700, rs104894549, rs139053885, rs1805136, rs12948217, rs104894550, rs149842031, rs149189911, rs145085349, rs104894552, rs78677072, rs140581464, rs145717248, rs148081446, rs141858640, rs28940279, rs138062143, CM023602, CM060201, CM063846, CM950102, CM960088, CM023604, CM950103, CM994594, CM940123, CM023015, CM990196, CM990197, CM930046, CM940124 | dbSNP, SNPDBe, OMIM, HGMD | - | missense | E305A |
| 287 | , CM990198 | SNPDBe, HGMD | - | missense | A287T |
| 82 | rs28940574 , rs142041344, rs104894551, rs145616193, rs138158568, rs17850703, rs104894553, rs80099330, rs144639820, rs181347986, rs148451498, rs104894548, rs141755746, rs2228435, rs140357187, rs144321760, rs147763700, rs104894549, rs139053885, rs1805136, rs12948217, rs104894550, rs149842031, rs149189911, rs145085349, rs104894552, rs78677072, rs140581464, rs145717248, rs148081446, rs141858640, rs28940279, rs138062143, CM023602, CM060201, CM063846, CM950102, CM960088, CM023604, CM950103, CM994594, CM940123, CM023015, CM990196, CM990197, CM930046, CM940124 | dbSNP, SNPDBe, OMIM, HGMD | - | missense | E305A |
| 244 | , CM023607, CM063848 | SNPDBe, HGMD | - | missense | H244R |
| 249 | rs28940574 , rs142041344, rs104894551, rs145616193, rs138158568, rs17850703, rs104894553, rs80099330, rs144639820, rs181347986, rs148451498, rs104894548, rs141755746, rs2228435, rs140357187, rs144321760, rs147763700, rs104894549, rs139053885, rs1805136, rs12948217, rs104894550, rs149842031, rs149189911, rs145085349, rs104894552, rs78677072, rs140581464, rs145717248, rs148081446, rs141858640, rs28940279, rs138062143, CM023602, CM060201, CM063846, CM950102, CM960088, CM023604, CM950103, CM994594, CM940123, CM023015, CM990196, CM990197, CM930046, CM940124 | dbSNP, SNPDBe, OMIM, HGMD | - | missense | E305A |
| 202 | rs28940574 , rs142041344, rs104894551, rs145616193, rs138158568, rs17850703, rs104894553, rs80099330, rs144639820, rs181347986, rs148451498, rs104894548, rs141755746, rs2228435, rs140357187, rs144321760, rs147763700, rs104894549, rs139053885, rs1805136, rs12948217, rs104894550, rs149842031, rs149189911, rs145085349, rs104894552, rs78677072, rs140581464, rs145717248, rs148081446, rs141858640, rs28940279, rs138062143, CM023602, CM060201, CM063846, CM950102, CM960088, CM023604, CM950103, CM994594, CM940123, CM023015, CM990196, CM990197, CM930046, CM940124 | dbSNP, SNPDBe, OMIM, HGMD | - | missense | E305A |
| 68 | , CM023603 | SNPDBe, HGMD | - | missense | D68A |
| 121 | rs28940574 , rs142041344, rs104894551, rs145616193, rs138158568, rs17850703, rs104894553, rs80099330, rs144639820, rs181347986, rs148451498, rs104894548, rs141755746, rs2228435, rs140357187, rs144321760, rs147763700, rs104894549, rs139053885, rs1805136, rs12948217, rs104894550, rs149842031, rs149189911, rs145085349, rs104894552, rs78677072, rs140581464, rs145717248, rs148081446, rs141858640, rs28940279, rs138062143, CM023602, CM060201, CM063846, CM950102, CM960088, CM023604, CM950103, CM994594, CM940123, CM023015, CM990196, CM990197, CM930046, CM940124 | dbSNP, SNPDBe, OMIM, HGMD | - | missense | E305A |
| 123 | , CM960087 | SNPDBe, HGMD | - | missense | G123E |
| 305 | rs28940574 , rs142041344, rs104894551, rs145616193, rs138158568, rs17850703, rs104894553, rs80099330, rs144639820, rs181347986, rs148451498, rs104894548, rs141755746, rs2228435, rs140357187, rs144321760, rs147763700, rs104894549, rs139053885, rs1805136, rs12948217, rs104894550, rs149842031, rs149189911, rs145085349, rs104894552, rs78677072, rs140581464, rs145717248, rs148081446, rs141858640, rs28940279, rs138062143, CM023602, CM060201, CM063846, CM950102, CM960088, CM023604, CM950103, CM994594, CM940123, CM023015, CM990196, CM990197, CM930046, CM940124 | dbSNP, SNPDBe, OMIM, HGMD | - | missense | E305A |
| 24 | rs28940574 , rs142041344, rs104894551, rs145616193, rs138158568, rs17850703, rs104894553, rs80099330, rs144639820, rs181347986, rs148451498, rs104894548, rs141755746, rs2228435, rs140357187, rs144321760, rs147763700, rs104894549, rs139053885, rs1805136, rs12948217, rs104894550, rs149842031, rs149189911, rs145085349, rs104894552, rs78677072, rs140581464, rs145717248, rs148081446, rs141858640, rs28940279, rs138062143, CM023602, CM060201, CM063846, CM950102, CM960088, CM023604, CM950103, CM994594, CM940123, CM023015, CM990196, CM990197, CM930046, CM940124 | dbSNP, SNPDBe, OMIM, HGMD | - | missense | E305A |
| 270 | rs200126822 | dbSNP, SNPDBe | - | missense | I270T |
| 272 | CM063851 | HGMD | 2006 | missense | L272P |
| 166 | CM063847 | HGMD | 2006 | missense | T166I |
| 26 | rs28940574 , rs142041344, rs104894551, rs145616193, rs138158568, rs17850703, rs104894553, rs80099330, rs144639820, rs181347986, rs148451498, rs104894548, rs141755746, rs2228435, rs140357187, rs144321760, rs147763700, rs104894549, rs139053885, rs1805136, rs12948217, rs104894550, rs149842031, rs149189911, rs145085349, rs104894552, rs78677072, rs140581464, rs145717248, rs148081446, rs141858640, rs28940279, rs138062143, CM023602, CM060201, CM063846, CM950102, CM960088, CM023604, CM950103, CM994594, CM940123, CM023015, CM990196, CM990197, CM930046, CM940124 | dbSNP, SNPDBe, OMIM, HGMD | - | missense | E305A |
| 27 | , CM960085 | SNPDBe, HGMD | - | missense | G27R |
| 274 | , CM950104 | SNPDBe, HGMD | - | missense | G274R |
| 168 | , CM001610, CM960089 | SNPDBe, HGMD | - | missense | R168H |
| 239 | rs28940574 , rs142041344, rs104894551, rs145616193, rs138158568, rs17850703, rs104894553, rs80099330, rs144639820, rs181347986, rs148451498, rs104894548, rs141755746, rs2228435, rs140357187, rs144321760, rs147763700, rs104894549, rs139053885, rs1805136, rs12948217, rs104894550, rs149842031, rs149189911, rs145085349, rs104894552, rs78677072, rs140581464, rs145717248, rs148081446, rs141858640, rs28940279, rs138062143, CM023602, CM060201, CM063846, CM950102, CM960088, CM023604, CM950103, CM994594, CM940123, CM023015, CM990196, CM990197, CM930046, CM940124 | dbSNP, SNPDBe, OMIM, HGMD | - | missense | E305A |
| 277 | rs28940574 , rs142041344, rs104894551, rs145616193, rs138158568, rs17850703, rs104894553, rs80099330, rs144639820, rs181347986, rs148451498, rs104894548, rs141755746, rs2228435, rs140357187, rs144321760, rs147763700, rs104894549, rs139053885, rs1805136, rs12948217, rs104894550, rs149842031, rs149189911, rs145085349, rs104894552, rs78677072, rs140581464, rs145717248, rs148081446, rs141858640, rs28940279, rs138062143, CM023602, CM060201, CM063846, CM950102, CM960088, CM023604, CM950103, CM994594, CM940123, CM023015, CM990196, CM990197, CM930046, CM940124 | dbSNP, SNPDBe, OMIM, HGMD | - | missense | E305A |
| 278 | rs28940574 , rs142041344, rs104894551, rs145616193, rs138158568, rs17850703, rs104894553, rs80099330, rs144639820, rs181347986, rs148451498, rs104894548, rs141755746, rs2228435, rs140357187, rs144321760, rs147763700, rs104894549, rs139053885, rs1805136, rs12948217, rs104894550, rs149842031, rs149189911, rs145085349, rs104894552, rs78677072, rs140581464, rs145717248, rs148081446, rs141858640, rs28940279, rs138062143, CM023602, CM060201, CM063846, CM950102, CM960088, CM023604, CM950103, CM994594, CM940123, CM023015, CM990196, CM990197, CM930046, CM940124 | dbSNP, SNPDBe, OMIM, HGMD | - | missense | E305A |
| 164 | SNPDBe | - | missense | Y164F | |
| 279 | rs28940574 , rs142041344, rs104894551, rs145616193, rs138158568, rs17850703, rs104894553, rs80099330, rs144639820, rs181347986, rs148451498, rs104894548, rs141755746, rs2228435, rs140357187, rs144321760, rs147763700, rs104894549, rs139053885, rs1805136, rs12948217, rs104894550, rs149842031, rs149189911, rs145085349, rs104894552, rs78677072, rs140581464, rs145717248, rs148081446, rs141858640, rs28940279, rs138062143, CM023602, CM060201, CM063846, CM950102, CM960088, CM023604, CM950103, CM994594, CM940123, CM023015, CM990196, CM990197, CM930046, CM940124 | dbSNP, SNPDBe, OMIM, HGMD | - | missense | E305A |
| 4 | rs28940574 , rs142041344, rs104894551, rs145616193, rs138158568, rs17850703, rs104894553, rs80099330, rs144639820, rs181347986, rs148451498, rs104894548, rs141755746, rs2228435, rs140357187, rs144321760, rs147763700, rs104894549, rs139053885, rs1805136, rs12948217, rs104894550, rs149842031, rs149189911, rs145085349, rs104894552, rs78677072, rs140581464, rs145717248, rs148081446, rs141858640, rs28940279, rs138062143, CM023602, CM060201, CM063846, CM950102, CM960088, CM023604, CM950103, CM994594, CM940123, CM023015, CM990196, CM990197, CM930046, CM940124 | dbSNP, SNPDBe, OMIM, HGMD | - | missense | E305A |
| 231 | rs28940574 , rs142041344, rs104894551, rs145616193, rs138158568, rs17850703, rs104894553, rs80099330, rs144639820, rs181347986, rs148451498, rs104894548, rs141755746, rs2228435, rs140357187, rs144321760, rs147763700, rs104894549, rs139053885, rs1805136, rs12948217, rs104894550, rs149842031, rs149189911, rs145085349, rs104894552, rs78677072, rs140581464, rs145717248, rs148081446, rs141858640, rs28940279, rs138062143, CM023602, CM060201, CM063846, CM950102, CM960088, CM023604, CM950103, CM994594, CM940123, CM023015, CM990196, CM990197, CM930046, CM940124 | dbSNP, SNPDBe, OMIM, HGMD | - | missense | E305A |
| 71 | rs28940574 , rs142041344, rs104894551, rs145616193, rs138158568, rs17850703, rs104894553, rs80099330, rs144639820, rs181347986, rs148451498, rs104894548, rs141755746, rs2228435, rs140357187, rs144321760, rs147763700, rs104894549, rs139053885, rs1805136, rs12948217, rs104894550, rs149842031, rs149189911, rs145085349, rs104894552, rs78677072, rs140581464, rs145717248, rs148081446, rs141858640, rs28940279, rs138062143, CM023602, CM060201, CM063846, CM950102, CM960088, CM023604, CM950103, CM994594, CM940123, CM023015, CM990196, CM990197, CM930046, CM940124 | dbSNP, SNPDBe, OMIM, HGMD | - | missense | E305A |
| 236 | rs28940574 , rs142041344, rs104894551, rs145616193, rs138158568, rs17850703, rs104894553, rs80099330, rs144639820, rs181347986, rs148451498, rs104894548, rs141755746, rs2228435, rs140357187, rs144321760, rs147763700, rs104894549, rs139053885, rs1805136, rs12948217, rs104894550, rs149842031, rs149189911, rs145085349, rs104894552, rs78677072, rs140581464, rs145717248, rs148081446, rs141858640, rs28940279, rs138062143, CM023602, CM060201, CM063846, CM950102, CM960088, CM023604, CM950103, CM994594, CM940123, CM023015, CM990196, CM990197, CM930046, CM940124 | dbSNP, SNPDBe, OMIM, HGMD | - | missense | E305A |
| 235 | rs28940574 , rs142041344, rs104894551, rs145616193, rs138158568, rs17850703, rs104894553, rs80099330, rs144639820, rs181347986, rs148451498, rs104894548, rs141755746, rs2228435, rs140357187, rs144321760, rs147763700, rs104894549, rs139053885, rs1805136, rs12948217, rs104894550, rs149842031, rs149189911, rs145085349, rs104894552, rs78677072, rs140581464, rs145717248, rs148081446, rs141858640, rs28940279, rs138062143, CM023602, CM060201, CM063846, CM950102, CM960088, CM023604, CM950103, CM994594, CM940123, CM023015, CM990196, CM990197, CM930046, CM940124 | dbSNP, SNPDBe, OMIM, HGMD | - | missense | E305A |
| 57 | , CM001609 | SNPDBe, HGMD | - | missense | A57T |
| 213 | CM055097 | HGMD | 2005 | missense | K213E |
| 214 | CM023606 | HGMD | 2002 | missense | E214Ter |
| 314 | CM023608 | HGMD | 2002 | missense | Ter314W |
| 18 | CM067343 | HGMD | 2006 | missense | G18R |
| 178 | SNPDBe | - | missense | E178A | |
| 218 | rs28940574 , rs142041344, rs104894551, rs145616193, rs138158568, rs17850703, rs104894553, rs80099330, rs144639820, rs181347986, rs148451498, rs104894548, rs141755746, rs2228435, rs140357187, rs144321760, rs147763700, rs104894549, rs139053885, rs1805136, rs12948217, rs104894550, rs149842031, rs149189911, rs145085349, rs104894552, rs78677072, rs140581464, rs145717248, rs148081446, rs141858640, rs28940279, rs138062143, CM023602, CM060201, CM063846, CM950102, CM960088, CM023604, CM950103, CM994594, CM940123, CM023015, CM990196, CM990197, CM930046, CM940124 | dbSNP, SNPDBe, OMIM, HGMD | - | missense | E305A |
| 16 | , CM960084 | SNPDBe, HGMD | - | missense | I16T |
| 310 | SNPDBe | - | missense | C310G | |
| 14 | CM063852 | HGMD | 2006 | missense | V14G |
| 170 | rs28940574 , rs142041344, rs104894551, rs145616193, rs138158568, rs17850703, rs104894553, rs80099330, rs144639820, rs181347986, rs148451498, rs104894548, rs141755746, rs2228435, rs140357187, rs144321760, rs147763700, rs104894549, rs139053885, rs1805136, rs12948217, rs104894550, rs149842031, rs149189911, rs145085349, rs104894552, rs78677072, rs140581464, rs145717248, rs148081446, rs141858640, rs28940279, rs138062143, CM023602, CM060201, CM063846, CM950102, CM960088, CM023604, CM950103, CM994594, CM940123, CM023015, CM990196, CM990197, CM930046, CM940124 | dbSNP, SNPDBe, OMIM, HGMD | - | missense | E305A |
| 21 | , CM001608 | SNPDBe, HGMD | - | missense | H21P |
| 109 | CM990192 | HGMD | 1999 | missense | Y109Ter |
| 220 | rs28940574 , rs142041344, rs104894551, rs145616193, rs138158568, rs17850703, rs104894553, rs80099330, rs144639820, rs181347986, rs148451498, rs104894548, rs141755746, rs2228435, rs140357187, rs144321760, rs147763700, rs104894549, rs139053885, rs1805136, rs12948217, rs104894550, rs149842031, rs149189911, rs145085349, rs104894552, rs78677072, rs140581464, rs145717248, rs148081446, rs141858640, rs28940279, rs138062143, CM023602, CM060201, CM063846, CM950102, CM960088, CM023604, CM950103, CM994594, CM940123, CM023015, CM990196, CM990197, CM930046, CM940124 | dbSNP, SNPDBe, OMIM, HGMD | - | missense | E305A |
| 143 | rs199565861, CM980125, CM063849 | dbSNP, SNPDBe, HGMD | - | missense | I143V |
| 93 | rs28940574 , rs142041344, rs104894551, rs145616193, rs138158568, rs17850703, rs104894553, rs80099330, rs144639820, rs181347986, rs148451498, rs104894548, rs141755746, rs2228435, rs140357187, rs144321760, rs147763700, rs104894549, rs139053885, rs1805136, rs12948217, rs104894550, rs149842031, rs149189911, rs145085349, rs104894552, rs78677072, rs140581464, rs145717248, rs148081446, rs141858640, rs28940279, rs138062143, CM023602, CM060201, CM063846, CM950102, CM960088, CM023604, CM950103, CM994594, CM940123, CM023015, CM990196, CM990197, CM930046, CM940124 | dbSNP, SNPDBe, OMIM, HGMD | - | missense | E305A |
| 226 | rs201887670, CM086530 | dbSNP, HGMD | - | missense | I226K |
| 295 | , CM950105 | SNPDBe, HGMD | - | missense | F295S |
| 181 | , CM063850, CM001611 | SNPDBe, HGMD | - | missense | P181T |
| 183 | , CM990193 | SNPDBe, HGMD | - | missense | P183H |
| 184 | CM023605 | HGMD | 2002 | missense | Q184Ter |
| 186 | , CM990194 | SNPDBe, HGMD | - | missense | V186F |
| 53 | rs28940574 , rs142041344, rs104894551, rs145616193, rs138158568, rs17850703, rs104894553, rs80099330, rs144639820, rs181347986, rs148451498, rs104894548, rs141755746, rs2228435, rs140357187, rs144321760, rs147763700, rs104894549, rs139053885, rs1805136, rs12948217, rs104894550, rs149842031, rs149189911, rs145085349, rs104894552, rs78677072, rs140581464, rs145717248, rs148081446, rs141858640, rs28940279, rs138062143, CM023602, CM060201, CM063846, CM950102, CM960088, CM023604, CM950103, CM994594, CM940123, CM023015, CM990196, CM990197, CM930046, CM940124 | dbSNP, SNPDBe, OMIM, HGMD | - | missense | E305A |
MTSCHIAEEHIQKVAIFGGTHGNELTGVFLVKHWLENGAEIQRTGLEVKPFITNPRAVKKCTRYIDCDLNRIFDLENLGKKMSEDLPYEVRRAQEINHLF
R G T R P G TR R A T A K T A
GPKDSEDSYDIIFDLHNTTSNMGCTLILEDSRNNFLIQMFHYIKTSLAPLPCYVYLIEHPSLKYATTRSIAKYPVGIEVGPQPQGVLRADILDQMRKMIK
r V Y D E V RYI T F I H T A T Hr F R
HALDFIHHFNEGKEFPPCAIEVYKIIEKVDYPRDENGEIAAIIHPNLQDQDWKPLHPGDPMFLTLDGKTIPLGGDCTVYPVFVNEAAYYEKKEAFAKTTK
S Er r T K r KN T R V T P R TMHLM AATF S
LTLNAKSIRCCLH-
E G W
