Difference between revisions of "Mapping SNPs HEXA"
From Bioinformatikpedia
(→Comparison of mutations in HGMD and SNP-DB) |
(→Comparison of mutations in HGMD and SNP-DB) |
||
Line 171: | Line 171: | ||
Mutations annotated only in SNP-DB: |
Mutations annotated only in SNP-DB: |
||
− | + | {| border="1" style="text-align:center; border-spacing:0;" |
|
|- |
|- |
||
|Position |
|Position |
Revision as of 17:05, 14 June 2011
Comparison of mutations in HGMD and SNP-DB
- Mutations annotated in both databases:
Position | Amino Acids | Codons |
26 | Trp -> Ter | TGGc -> TGA |
39 | Leu -> Arg | CTT -> CGT |
127 | Leu -> Phe | aCTC -> TTC |
127 | Leu -> Arg | CTC -> CGC |
137 | Arg -> Ter | cCGA -> TGA |
170 | Arg -> Trp | cCGG -> TGG |
170 | Arg -> Gln | CGG -> CAG |
178 | Arg -> His | CGC -> CAC |
178 | Arg -> Leu | CGC -> CTC |
178 | Arg -> Cys | tCGC -> TGC |
180 | Tyr -> Ter | TACc -> TAG |
180 | Tyr -> His | tTAC -> CAC |
197 | Lys -> Thr | AAA -> ACA |
200 | Val -> Met | cGTG -> ATG |
204 | His -> Arg | CAT -> CGT |
210 | Ser -> Phe | TCC -> TTC |
211 | Phe -> Ser | TTC -> TCC |
247 | Arg -> Trp | aCGG -> TGG |
250 | Gly -> Ser | gGGT -> AGT |
250 | Gly -> Asp | GGT -> GAT |
250 | Gly -> Val | GGT -> GTT |
258 | Asp -> His | tGAC -> CAC |
269 | Gly -> Ser | aGGT -> AGT |
269 | Gly -> Asp | GGT -> GAT |
301 | Met -> Arg | ATG -> AGG |
329 | Trp -> Ter | TGG -> TAG |
393 | Arg -> Ter | gCGA -> TGA |
420 | Trp -> Cys | TGGt -> TGC |
420 | Trp -> Cys | TGGt -> TGT |
451 | Leu -> Val | tCTG -> GTG |
454 | Gly -> Asp | GGT -> GAT |
454 | Gly -> Ser | tGGT -> AGT |
474 | Trp -> Cys | TGGc -> TGC |
482 | Glu -> Lys | cGAA -> AAA |
485 | Trp -> Arg | gTGG -> CGG |
499 | Arg -> Cys | aCGT -> TGT |
499 | Arg -> His | CGT -> CAT |
504 | Arg -> Cys | cCGC -> TGC |
504 | Arg -> His | CGC -> CAC |
Mutations annotated only in HGMD: not found
Mutations annotated only in SNP-DB:
Position | Amino Acids | Codons | |
248 | Asp -> Lys | GAA -> AAA | |
Arg -> Glu | CGA -> CAA | ||
Pro -> Pro | CCG -> CCA | ||
203 | STOP -> Arg | TGA -> CGA | |
Leu -> Pro | CTG -> CCG | ||
Thr -> Thr | ACT -> ACC | ||
179 | Val -> Leu | GTA -> CTA | |
Ser -> Thr | AGT -> ACT | ||
Asp -> Asp | GAG -> GAC | ||
191 | Asp -> Asn | GAC -> AAC | |
Arg -> Lys | AGA -> AAA | ||
Asp -> Asp | GAG -> GAA | ||
116 | Phe -> Leu | TTC -> CTC | |
Leu -> Pro | CTT -> CCT | ||
Thr -> Thr | ACT -> ACC | ||
116 | Ser -> Pro | TCC -> CCC | |
Phe -> Ser | TTC -> TCC | ||
Val -> Val | GTT -> GTC | ||
446 | Gly -> Arg | GGG -> AGG | |
Arg -> Glu | CGG -> CAG | ||
Ser -> Ser | TCG -> TCA | ||
324 | STOP -> Arg | TGA -> CGA | |
STOP -> Arg | TGA -> AGA | ||
test | 972A>T -> 972A>T | ||
Val -> Val | GTC -> GTA | ||
85 | Leu -> Leu | TTG -> CTG | |
Phe -> Ser | TTT -> TCT | ||
Leu -> Leu | CTT -> CTC | ||
85 | Val -> Met | GTG -> ATG | |
Ser -> Asn | AGT -> AAT | ||
Lys -> Lys | AAG -> AAA | ||
85 | Leu -> Leu | TTA -> CTA | |
Val -> Ala | GTT -> GCT | ||
Gly -> Gly | GGT -> GGC | ||
85 | Tyr -> His | TAC -> CAC | |
Iso -> Thr | ATA -> ACA | ||
Tyr -> Tyr | TAT -> TAC | ||
85 | Cys -> Arg | TGC -> CGC | |
Leu -> Pro | CTG -> CCG | ||
Ser -> Ser | TCT -> TCC | ||
85 | Trp -> Arg | TGG -> CGG | |
Leu -> Ser | TTG -> TCG | ||
Leu -> Leu | CTT -> CTC | ||
85 | Val -> Leu | GTG -> CTG | |
Cys -> Ser | TGT -> TCT | ||
Leu -> Leu | CTG -> CTC | ||
85 | Cys -> Arg | TGC -> CGC | |
Met -> Thr | ATG -> ACG | ||
Tyr -> Tyr | TAT -> TAC | ||
358 | Asp -> His | GAT -> CAT | |
Arg -> Thr | AGA -> ACA | ||
Glu -> His | CAG -> CAC | ||
85 | Ala -> Pro | GCT -> CCT | |
Arg -> Pro | CGC -> CCC | ||
Ser -> Ser | TCG -> TCC | ||
269 | Val -> Iso | GTT -> ATT | |
Gly -> Asp | GGT -> GAT | ||
Trp -> STOP | TGG -> TGA | ||
269 | STOP -> Arg | TGA -> CGA | |
Leu -> Pro | CTG -> CCG | ||
Pro -> Pro | CCT -> CCC | ||
138 | Asp -> Lys | GAG -> AAG | |
Arg -> Lys | AGA -> AAA | ||
Lys -> Lys | AAG -> AAA | ||
85 | Phe -> Leu | TTC -> CTC | |
Phe -> Ser | TTT -> TCT | ||
Phe -> Phe | TTT -> TTC | ||
138 | Asp -> Lys | GAA -> AAA | |
STOP -> STOP | TGA -> TAA | ||
Leu -> Leu | TTG -> TTA | ||
85 | Val -> Iso | GTA -> ATA | |
Cys -> Tyr | TGT -> TAT | ||
Leu -> Leu | TTG -> TTA | ||
109 | Phe -> Leu | TTT -> CTT | |
Leu -> Pro | CTT -> CCT | ||
Thr -> Thr | ACT -> ACC | ||
191 | Ala -> Thr | GCC -> ACC | |
Arg -> His | CGC -> CAC | ||
Ser -> Ser | TCG -> TCA | ||
138 | Glu -> Lys | CAA -> AAA | |
Thr -> Lys | ACA -> AAA | ||
Asp -> Asp | GAC -> GAA | ||
85 | Cys -> Arg | TGT -> CGT | |
Leu -> Pro | CTG -> CCG | ||
Pro -> Pro | CCT -> CCC | ||
85 | Asp -> Asn | GAT -> AAT | |
STOP -> STOP | TGA -> TAA | ||
Met -> Iso | ATG -> ATA | ||
116 | Ser -> Ala | TCT -> GCT | |
Phe -> Cys | TTC -> TGC | ||
Iso -> Met | ATT -> ATG | ||
85 | Glu -> Lys | CAG -> AAG | |
Thr -> Lys | ACA -> AAA | ||
Asp -> Asp | GAC -> GAA | ||
85 | Ser -> Pro | TCT -> CCT | |
Phe -> Ser | TTC -> TCC | ||
Leu -> Leu | CTT -> CTC | ||
474 | Trp -> Arg | TGG -> CGG | |
Met -> Thr | ATG -> ACG | ||
Tyr -> Tyr | TAT -> TAC | ||
85 | Ala -> Thr | GCT -> ACT | |
Arg -> His | CGC -> CAC | ||
Ser -> Ser | TCG -> TCA | ||
540 | STOP -> Glu | TAG -> CAG | |
Iso -> Thr | ATA -> ACA | ||
His -> His | CAT -> CAC | ||
476 | Val -> Iso | GTT -> ATT | |
Ser -> Asn | AGT -> AAT | ||
Lys -> Lys | AAG -> AAA | ||
29 | Phe -> Leu | TTC -> CTC | |
Val -> Ala | GTT -> GCT | ||
Cys -> Cys | TGT -> TGC | ||
85 | Trp -> Arg | TGG -> CGG | |
Leu -> Ser | TTG -> TCG | ||
Phe -> Phe | TTT -> TTC | ||
85 | Leu -> Iso | CTA -> ATA | |
Ser -> Tyr | TCT -> TAT | ||
Phe -> Leu | TTC -> TTA | ||
138 | Asp -> Lys | GAG -> AAG | |
STOP -> STOP | TGA -> TAA | ||
Leu -> Leu | CTG -> CTA | ||
85 | Gly -> Arg | GGA -> AGA | |
Arg -> Lys | AGG -> AAG | ||
STOP -> STOP | TAG -> TAA | ||
85 | Val -> Leu | GTC -> CTC | |
Gly -> Ala | GGT -> GCT | ||
Gly -> Gly | GGG -> GGC | ||
208 | Leu -> Leu | TTG -> CTG | |
Iso -> Thr | ATT -> ACT | ||
Tyr -> Tyr | TAT -> TAC | ||
358 | Trp -> Arg | TGG -> AGG | |
Leu -> Glu | CTG -> CAG | ||
Pro -> Pro | CCT -> CCA | ||
358 | Trp -> Gly | TGG -> GGG | |
Val -> Gly | GTG -> GGG | ||
Ser -> Arg | AGT -> AGG | ||
444 | Ser -> Pro | TCA -> CCA | |
Phe -> Ser | TTC -> TCC | ||
Leu -> Leu | CTT -> CTC | ||
474 | Leu -> Leu | TTG -> CTG | |
Val -> Ala | GTT -> GCT | ||
Gly -> Gly | GGT -> GGC | ||
509 | STOP -> Glu | TAG -> CAG | |
Iso -> Thr | ATA -> ACA | ||
Tyr -> Tyr | TAT -> TAC | ||
85 | Asp -> Glu | GAG -> CAG | |
STOP -> Ser | TGA -> TCA | ||
Val -> Val | GTG -> GTC | ||
85 | Val -> Leu | GTT -> CTT | |
Ser -> Thr | AGT -> ACT | ||
Asp -> Asp | GAG -> GAC | ||
3 | Phe -> Leu | TTC -> CTC | |
Val -> Ala | GTT -> GCT | ||
Ser -> Ser | AGT -> AGC | ||
85 | Glu -> Lys | CAG -> AAG | |
Ala -> Asp | GCA -> GAA | ||
Cys -> STOP | TGC -> TGA | ||
85 | Asp -> Asn | GAC -> AAC | |
Arg -> Glu | CGA -> CAA | ||
Pro -> Pro | CCG -> CCA |