Difference between revisions of "Protocol-msud-task5 protocol"

From Bioinformatikpedia
(→‎dbSNP)
(→‎dbSNP)
Line 49: Line 49:
 
| 3
  
| 3
 
| C
  
| C
−
| T,
+
| T
  +
| Ile [I]
 
| Ile [I]
  
| Ile [I]
−
| Ile [I],
 
 
|-
  
|-
 
| rs34541442
 
| rs34541442
Line 58: Line 58:
 
| 1
  
| 1
 
| C
  
| C
−
| A,
+
| A
  +
| Arg [R]
 
| Arg [R]
  
| Arg [R]
−
| Arg [R],
 
 
|-
  
|-
 
| rs146823708
 
| rs146823708
Line 67: Line 67:
 
| 3
  
| 3
 
| G
  
| G
−
| C,
+
| C
 
| Leu [L]
  
| Leu [L]
−
| Phe [F],
+
| Phe [F]
 
|-
  
|-
 
| rs140322984
 
| rs140322984
Line 76: Line 76:
 
| 3
  
| 3
 
| C
  
| C
−
| T,
+
| T
  +
| Ala [A]
 
| Ala [A]
  
| Ala [A]
−
| Ala [A],
 
 
|-
  
|-
 
| rs111855817
 
| rs111855817
Line 85: Line 85:
 
| 2
  
| 2
 
| G
  
| G
−
| A,
+
| A
 
| Gly [G]
  
| Gly [G]
−
| Glu [E],
+
| Glu [E]
 
|-
  
|-
 
| rs62637712
 
| rs62637712
Line 94: Line 94:
 
| 3
  
| 3
 
| C
  
| C
−
| G, T,
+
| G, T
 
| Pro [P]
  
| Pro [P]
−
| Pro [P], Pro [P],
+
| Pro [P], Pro [P]
 
|-
  
|-
 
| rs34589432
 
| rs34589432
Line 103: Line 103:
 
| 2
  
| 2
 
| C
  
| C
−
| A,
+
| A
 
| Pro [P]
  
| Pro [P]
−
| His [H],
+
| His [H]
 
|-
  
|-
 
| rs80014754
 
| rs80014754
Line 112: Line 112:
 
| 3
  
| 3
 
| C
  
| C
−
| A,
+
| A
  +
| Pro [P]
 
| Pro [P]
  
| Pro [P]
−
| Pro [P],
 
 
|-
  
|-
 
| rs150177278
 
| rs150177278
Line 121: Line 121:
 
| 2
  
| 2
 
| A
  
| A
−
| G,
+
| G
 
| Gln [Q]
  
| Gln [Q]
−
| Arg [R],
+
| Arg [R]
 
|-
  
|-
 
| rs138373035
 
| rs138373035
Line 130: Line 130:
 
| 2
  
| 2
 
| C
  
| C
−
| T,
+
| T
 
| Ala [A]
  
| Ala [A]
−
| Val [V],
+
| Val [V]
 
|-
  
|-
 
| rs149251798
 
| rs149251798
Line 139: Line 139:
 
| 3
  
| 3
 
| A
  
| A
−
| G,
+
| G
 
| Ile [I]
  
| Ile [I]
−
| Met [M],
+
| Met [M]
 
|-
  
|-
 
| rs147370725
 
| rs147370725
Line 148: Line 148:
 
| 2
  
| 2
 
| A
  
| A
−
| G,
+
| G
 
| Asn [N]
  
| Asn [N]
−
| Ser [S],
+
| Ser [S]
 
|-
  
|-
 
| rs138025447
 
| rs138025447
Line 157: Line 157:
 
| 3
  
| 3
 
| C
  
| C
−
| T,
+
| T
  +
| Asn [N]
 
| Asn [N]
  
| Asn [N]
−
| Asn [N],
 
 
|-
  
|-
 
| rs143167070
 
| rs143167070
Line 166: Line 166:
 
| 3
  
| 3
 
| C
  
| C
−
| T,
+
| T
  +
| Arg [R]
 
| Arg [R]
  
| Arg [R]
−
| Arg [R],
 
 
|-
  
|-
 
| rs11549938
 
| rs11549938
Line 175: Line 175:
 
| 1
  
| 1
 
| A
  
| A
−
| C,
+
| C
 
| Met [M]
  
| Met [M]
−
| Leu [L],
+
| Leu [L]
 
|-
  
|-
 
| rs147510183
 
| rs147510183
Line 184: Line 184:
 
| 3
  
| 3
 
| G
  
| G
−
| A,
+
| A
 
| Met [M]
  
| Met [M]
−
| Ile [I],
+
| Ile [I]
 
|-
  
|-
 
| rs148571328
 
| rs148571328
Line 193: Line 193:
 
| 3
  
| 3
 
| C
  
| C
−
| T,
+
| T
  +
| His [H]
 
| His [H]
  
| His [H]
−
| His [H],
 
 
|-
  
|-
 
| rs11549937
 
| rs11549937
Line 202: Line 202:
 
| 3
  
| 3
 
| G
  
| G
−
| C,
+
| C
  +
| Leu [L]
 
| Leu [L]
  
| Leu [L]
−
| Leu [L],
 
 
|-
  
|-
 
| rs142967869
 
| rs142967869
Line 211: Line 211:
 
| 3
  
| 3
 
| G
  
| G
−
| A,
+
| A
  +
| Pro [P]
 
| Pro [P]
  
| Pro [P]
−
| Pro [P],
 
 
|-
  
|-
 
| rs150700696
 
| rs150700696
Line 220: Line 220:
 
| 3
  
| 3
 
| T
  
| T
−
| G,
+
| G
  +
| Leu [L]
 
| Leu [L]
  
| Leu [L]
−
| Leu [L],
 
 
|-
  
|-
 
| rs188135164
 
| rs188135164
Line 229: Line 229:
 
| 1
  
| 1
 
| C
  
| C
−
| T,
+
| T
 
| Arg [R]
  
| Arg [R]
−
| Cys [C],
+
| Cys [C]
 
|-
  
|-
 
| rs139678295
 
| rs139678295
Line 238: Line 238:
 
| 1
  
| 1
 
| C
  
| C
−
| T,
+
| T
 
| Arg [R]
  
| Arg [R]
−
| Trp [W],
+
| Trp [W]
 
|-
  
|-
 
| rs143608852
 
| rs143608852
Line 247: Line 247:
 
| 3
  
| 3
 
| G
  
| G
−
| A,
+
| A
  +
| Thr [T]
 
| Thr [T]
  
| Thr [T]
−
| Thr [T],
 
 
|-
  
|-
 
| rs146804716
 
| rs146804716
Line 256: Line 256:
 
| 3
  
| 3
 
| C
  
| C
−
| T,
+
| T
  +
| His [H]
 
| His [H]
  
| His [H]
−
| His [H],
 
 
|-
  
|-
 
| rs140612545
 
| rs140612545
Line 265: Line 265:
 
| 1
  
| 1
 
| A
  
| A
−
| G,
+
| G
 
| Asn [N]
  
| Asn [N]
−
| Asp [D],
+
| Asp [D]
 
|-
  
|-
 
| rs34442879
 
| rs34442879
Line 274: Line 274:
 
| 2
  
| 2
 
| C
  
| C
−
| T,
+
| T
 
| Thr [T]
  
| Thr [T]
−
| Met [M],
+
| Met [M]
 
|-
  
|-
 
| rs34956071
 
| rs34956071
Line 283: Line 283:
 
| 1
  
| 1
 
| C
  
| C
−
| T,
+
| T
 
| Pro [P]
  
| Pro [P]
−
| Ser [S],
+
| Ser [S]
 
|-
  
|-
 
| rs190610188
 
| rs190610188
Line 292: Line 292:
 
| 1
  
| 1
 
| C
  
| C
−
| T,
+
| T
 
| Arg [R]
  
| Arg [R]
−
| Cys [C],
+
| Cys [C]
 
|-
  
|-
 
| rs144995574
 
| rs144995574
Line 301: Line 301:
 
| 3
  
| 3
 
| C
  
| C
−
| T,
+
| T
  +
| Ser [S]
 
| Ser [S]
  
| Ser [S]
−
| Ser [S],
 
 
|-
  
|-
 
| rs10404506
 
| rs10404506
Line 310: Line 310:
 
| 3
  
| 3
 
| C
  
| C
−
| T,
+
| T
  +
| Ile [I]
 
| Ile [I]
  
| Ile [I]
−
| Ile [I],
 
 
|-
  
|-
 
| rs114716391
 
| rs114716391
Line 319: Line 319:
 
| 3
  
| 3
 
| G
  
| G
−
| T,
+
| T
  +
| Ala [A]
 
| Ala [A]
  
| Ala [A]
−
| Ala [A],
 
 
|-
  
|-
 
| rs151227241
 
| rs151227241
Line 328: Line 328:
 
| 3
  
| 3
 
| C
  
| C
−
| T,
+
| T
  +
| Tyr [Y]
 
| Tyr [Y]
  
| Tyr [Y]
−
| Tyr [Y],
 
 
|-
  
|-
 
| rs141086188
 
| rs141086188
Line 337: Line 337:
 
| 1
  
| 1
 
| G
  
| G
−
| A,
+
| A
 
| Ala [A]
  
| Ala [A]
−
| Thr [T],
+
| Thr [T]
 
|-
  
|-
 
| rs146932786
 
| rs146932786
Line 346: Line 346:
 
| 3
  
| 3
 
| C
  
| C
−
| T,
+
| T
  +
| Phe [F]
 
| Phe [F]
  
| Phe [F]
−
| Phe [F],
 
 
|-
  
|-
 
| rs28940288
 
| rs28940288
Line 355: Line 355:
 
| 1
  
| 1
 
| G
  
| G
−
| A,
+
| A
 
| Gly [G]
  
| Gly [G]
−
| Arg [R],
+
| Arg [R]
 
|-
  
|-
 
| rs137960127
 
| rs137960127
Line 364: Line 364:
 
| 3
  
| 3
 
| C
  
| C
−
| T,
+
| T
  +
| Ala [A]
 
| Ala [A]
  
| Ala [A]
−
| Ala [A],
 
 
|-
  
|-
 
| rs61737367
 
| rs61737367
Line 373: Line 373:
 
| 3
  
| 3
 
| C
  
| C
−
| T,
+
| T
  +
| Arg [R]
 
| Arg [R]
  
| Arg [R]
−
| Arg [R],
 
 
|-
  
|-
 
| rs145901144
 
| rs145901144
Line 382: Line 382:
 
| 1
  
| 1
 
| C
  
| C
−
| T,
+
| T
 
| Arg [R]
  
| Arg [R]
−
| Cys [C],
+
| Cys [C]
 
|-
  
|-
 
| rs187669174
 
| rs187669174
Line 391: Line 391:
 
| 3
  
| 3
 
| C
  
| C
−
| T,
+
| T
  +
| Arg [R]
 
| Arg [R]
  
| Arg [R]
−
| Arg [R],
 
 
|-
  
|-
 
| rs138261404
 
| rs138261404
Line 400: Line 400:
 
| 1
  
| 1
 
| T
  
| T
−
| C,
+
| C
 
| Tyr [Y]
  
| Tyr [Y]
−
| His [H],
+
| His [H]
 
|-
  
|-
 
| rs139390622
 
| rs139390622
Line 409: Line 409:
 
| 3
  
| 3
 
| C
  
| C
−
| T,
+
| T
  +
| Asn [N]
 
| Asn [N]
  
| Asn [N]
−
| Asn [N],
 
 
|-
  
|-
 
| rs144372407
 
| rs144372407
Line 418: Line 418:
 
| 2
  
| 2
 
| G
  
| G
−
| A,
+
| A
 
| Arg [R]
  
| Arg [R]
−
| Gln [Q],
+
| Gln [Q]
 
|-
  
|-
 
| rs190858285
 
| rs190858285
Line 427: Line 427:
 
| 3
  
| 3
 
| G
  
| G
−
| T,
+
| T
  +
| Arg [R]
 
| Arg [R]
  
| Arg [R]
−
| Arg [R],
 
 
|-
  
|-
 
| rs284652
 
| rs284652
Line 436: Line 436:
 
| 3
  
| 3
 
| C
  
| C
−
| T,
+
| T
  +
| Phe [F]
 
| Phe [F]
  
| Phe [F]
−
| Phe [F],
 
 
|-
  
|-
 
| rs112312448
 
| rs112312448
Line 445: Line 445:
 
| 1
  
| 1
 
| C
  
| C
−
| None,
+
| None
 
| Leu [L]
  
| Leu [L]
−
| None,
+
| None
 
|-
  
|-
 
| rs55940366
 
| rs55940366
Line 454: Line 454:
 
| 3
  
| 3
 
| C
  
| C
−
| T,
+
| T
  +
| Leu [L]
 
| Leu [L]
  
| Leu [L]
−
| Leu [L],
 
 
|-
  
|-
 
| rs146300600
 
| rs146300600
Line 463: Line 463:
 
| 2
  
| 2
 
| C
  
| C
−
| T,
+
| T
 
| Ala [A]
  
| Ala [A]
−
| Val [V],
+
| Val [V]
 
|-
  
|-
 
| rs182923857
 
| rs182923857
Line 472: Line 472:
 
| 1
  
| 1
 
| C
  
| C
−
| T,
+
| T
 
| Arg [R]
  
| Arg [R]
−
| Cys [C],
+
| Cys [C]
 
|-
  
|-
 
| rs139556493
 
| rs139556493
Line 481: Line 481:
 
| 2
  
| 2
 
| C
  
| C
−
| T,
+
| T
 
| Ser [S]
  
| Ser [S]
−
| Leu [L],
+
| Leu [L]
 
|-
  
|-
 
| rs144276456
 
| rs144276456
Line 490: Line 490:
 
| 3
  
| 3
 
| G
  
| G
−
| A,
+
| A
  +
| Ser [S]
 
| Ser [S]
  
| Ser [S]
−
| Ser [S],
 
 
|-
  
|-
 
| rs185688419
 
| rs185688419
Line 499: Line 499:
 
| 2
  
| 2
 
| A
  
| A
−
| G,
+
| G
 
| Gln [Q]
  
| Gln [Q]
−
| Arg [R],
+
| Arg [R]
 
|-
  
|-
 
| rs61736656
 
| rs61736656
Line 508: Line 508:
 
| 1
  
| 1
 
| A
  
| A
−
| G,
+
| G
 
| Ile [I]
  
| Ile [I]
−
| Val [V],
+
| Val [V]
 
|-
  
|-
 
| rs190202447
 
| rs190202447
Line 517: Line 517:
 
| 3
  
| 3
 
| G
  
| G
−
| A,
+
| A
  +
| Arg [R]
 
| Arg [R]
  
| Arg [R]
−
| Arg [R],
 
 
|-
  
|-
 
| rs139553536
 
| rs139553536
Line 526: Line 526:
 
| 2
  
| 2
 
| G
  
| G
−
| A,
+
| A
 
| Arg [R]
  
| Arg [R]
−
| Gln [Q],
+
| Gln [Q]
 
|-
  
|-
 
| rs149722591
 
| rs149722591
Line 535: Line 535:
 
| 2
  
| 2
 
| C
  
| C
−
| G,
+
| G
 
| Pro [P]
  
| Pro [P]
−
| Arg [R],
+
| Arg [R]
 
|-
  
|-
 
| rs145595627
 
| rs145595627
Line 544: Line 544:
 
| 3
  
| 3
 
| C
  
| C
−
| T,
+
| T
  +
| Pro [P]
 
| Pro [P]
  
| Pro [P]
−
| Pro [P],
 
 
|-
  
|-
 
| rs148090804
 
| rs148090804
Line 553: Line 553:
 
| 2
  
| 2
 
| A
  
| A
−
| G,
+
| G
 
| Asn [N]
  
| Asn [N]
−
| Ser [S],
+
| Ser [S]
 
|-
  
|-
 
| rs4674
 
| rs4674
Line 562: Line 562:
 
| 3
  
| 3
 
| A
  
| A
−
| C, G, T,
+
| C, G, T
 
| Leu [L]
  
| Leu [L]
−
| Leu [L], Leu [L], Leu [L],
+
| Leu [L], Leu [L], Leu [L]
 
|-
  
|-
 
| rs147021347
 
| rs147021347
Line 571: Line 571:
 
| 3
  
| 3
 
| C
  
| C
−
| T,
+
| T
  +
| Pro [P]
 
| Pro [P]
  
| Pro [P]
−
| Pro [P],
 
 
|-
  
|-
 
| rs34492894
 
| rs34492894
Line 580: Line 580:
 
| 3
  
| 3
 
| C
  
| C
−
| T,
+
| T
  +
| Leu [L]
 
| Leu [L]
  
| Leu [L]
−
| Leu [L],
 
 
|-
  
|-
 
| rs141991700
 
| rs141991700
Line 589: Line 589:
 
| 1
  
| 1
 
| C
  
| C
−
| A,
+
| A
 
| Gln [Q]
  
| Gln [Q]
−
| Lys [K],
+
| Lys [K]
 
|-
  
|-
 
| rs143065803
 
| rs143065803
Line 598: Line 598:
 
| 2
  
| 2
 
| G
  
| G
−
| A,
+
| A
 
| Arg [R]
  
| Arg [R]
−
| His [H],
+
| His [H]
 
|-
  
|-
 
| rs148224513
 
| rs148224513
Line 607: Line 607:
 
| 3
  
| 3
 
| C
  
| C
−
| T,
+
| T
  +
| Phe [F]
 
| Phe [F]
  
| Phe [F]
−
| Phe [F],
 
 
|-
  
|-
 
|}
  
|}

Revision as of 12:36, 6 June 2012

HGMD

sequence used by HGMD can be found [here] 

>gi|38372929|ref|NM_000709.2| Homo sapiens branched chain keto acid dehydrogenase E1, alpha polypeptide (BCKDHA), mRNA
GCCGGACCGCTGAGTGGTTGTTAGCCAAGATGGCGGTAGCGATCGCTGCAGCGAGGGTCTGGCGGCTAAA
CCGTGGTTTGAGCCAGGCTGCCCTCCTGCTGCTGCGGCAGCCTGGGGCTCGGGGACTGGCTAGATCTCAC
CCCCCCAGGCAGCAGCAGCAGTTTTCATCTCTGGATGACAAGCCCCAGTTCCCAGGGGCCTCGGCGGAGT
TTATAGATAAGTTGGAATTCATCCAGCCCAACGTCATCTCTGGAATCCCCATCTACCGCGTCATGGACCG
GCAAGGCCAGATCATCAACCCCAGCGAGGACCCCCACCTGCCGAAGGAGAAGGTGCTGAAGCTCTACAAG
AGCATGACACTGCTTAACACCATGGACCGCATCCTCTATGAGTCTCAGCGGCAGGGCCGGATCTCCTTCT
ACATGACCAACTATGGTGAGGAGGGCACGCACGTGGGGAGTGCCGCCGCCCTGGACAACACGGACCTGGT
GTTTGGCCAGTACCGGGAGGCAGGTGTGCTGATGTATCGGGACTACCCCCTGGAACTATTCATGGCCCAG
TGCTATGGCAACATCAGTGACTTGGGCAAGGGGCGCCAGATGCCTGTCCACTACGGCTGCAAGGAACGCC
ACTTCGTCACTATCTCCTCTCCACTGGCCACGCAGATCCCTCAGGCGGTGGGGGCGGCGTACGCAGCCAA
GCGGGCCAATGCCAACAGGGTCGTCATCTGTTACTTCGGCGAGGGGGCAGCCAGTGAGGGGGACGCCCAT
GCCGGCTTCAACTTCGCTGCCACACTTGAGTGCCCCATCATCTTCTTCTGCCGGAACAATGGCTACGCCA
TCTCCACGCCCACCTCTGAGCAGTATCGCGGCGATGGCATTGCAGCACGAGGCCCCGGGTATGGCATCAT
GTCAATCCGCGTGGATGGTAATGATGTGTTTGCCGTATACAACGCCACAAAGGAGGCCCGACGGCGGGCT
GTGGCAGAGAACCAGCCCTTCCTCATCGAGGCCATGACCTACAGGATCGGGCACCACAGCACCAGTGACG
ACAGTTCAGCGTACCGCTCGGTGGATGAGGTCAATTACTGGGATAAACAGGACCACCCCATCTCCCGGCT
GCGGCACTATCTGCTGAGCCAAGGCTGGTGGGATGAGGAGCAGGAGAAGGCCTGGAGGAAGCAGTCCCGC
AGGAAGGTGATGGAGGCCTTTGAGCAGGCCGAGCGGAAGCCCAAACCCAACCCCAACCTACTCTTCTCAG
ACGTGTATCAGGAGATGCCCGCCCAGCTCCGCAAGCAGCAGGAGTCTCTGGCCCGCCACCTGCAGACCTA
CGGGGAGCACTACCCACTGGATCACTTCGATAAGTGAGACCTGCTCAGCCCACCCCCACCCATCCTCAGC
TACCCCGAGAGGTAGCCCCACTCTAAGGGGAGCAGGGGGACCTGACAGCACACCACTGTCTTCCCCAGTC
AGCTCCCTCTAAAATACTCAGCGGCCAGGGCGGCTGCCACTCTTCACCCCTGCTCCTCCCGGCTGTTACA
TTGTCAGGGGACAGCATCTGCAGCAGTTGCTGAGGCTCCGTCAGCCCCCTCTTCACCTGTTGTTACAGTG
CCTTCTCCCAGGGGCTGGGTGAGGGCACATTCAGGACTAGAAGCCCCTCTGGGCATGGGGTGGACATGGC
AGGTCAGCCTGTGGAACTTGCGCAGGTGCGAGTGGCCAGCAGAGGTCACGAATAAACTGCATCTCTGCGC
CTGGCTCTCTACCAAAAAAAAAAAAAAAAAA

All Missense/Nonsense mutations listed in HGMD: 

Q125E, T151M, D152N, R159W, Y166N, R167Q, Q190K, I213T, A216V, A220V, G249S, A253T, C258Y, C264W, R265W, N267S, G283D, A285P, 
R287TERM, G290R, R297C, R297H, G300S, D302A, T310R, R314TERM, I326T, E327K, A328T, R346H, R363W, F409C, V412M, Y413H, Y413C, Y438N,

dbSNP

rs Cluster Id Function AA Pos Codon Pos From Nucleotide To Nucleotide From AA To AA
rs17173144 synonymous 5 3 C T Ile [I] Ile [I]
rs34541442 synonymous 12 1 C A Arg [R] Arg [R]
rs146823708 missense 17 3 G C Leu [L] Phe [F]
rs140322984 synonymous 21 3 C T Ala [A] Ala [A]
rs111855817 missense 29 2 G A Gly [G] Glu [E]
rs62637712 synonymous 38 3 C G, T Pro [P] Pro [P], Pro [P]
rs34589432 missense 39 2 C A Pro [P] His [H]
rs80014754 synonymous 39 3 C A Pro [P] Pro [P]
rs150177278 missense 42 2 A G Gln [Q] Arg [R]
rs138373035 missense 59 2 C T Ala [A] Val [V]
rs149251798 missense 62 3 A G Ile [I] Met [M]
rs147370725 missense 71 2 A G Asn [N] Ser [S]
rs138025447 synonymous 71 3 C T Asn [N] Asn [N]
rs143167070 synonymous 80 3 C T Arg [R] Arg [R]
rs11549938 missense 82 1 A C Met [M] Leu [L]
rs147510183 missense 82 3 G A Met [M] Ile [I]
rs148571328 synonymous 96 3 C T His [H] His [H]
rs11549937 synonymous 97 3 G C Leu [L] Leu [L]
rs142967869 synonymous 98 3 G A Pro [P] Pro [P]
rs150700696 synonymous 112 3 T G Leu [L] Leu [L]
rs188135164 missense 117 1 C T Arg [R] Cys [C]
rs139678295 missense 127 1 C T Arg [R] Trp [W]
rs143608852 synonymous 140 3 G A Thr [T] Thr [T]
rs146804716 synonymous 141 3 C T His [H] His [H]
rs140612545 missense 150 1 A G Asn [N] Asp [D]
rs34442879 missense 151 2 C T Thr [T] Met [M]
rs34956071 missense 170 1 C T Pro [P] Ser [S]
rs190610188 missense 200 1 C T Arg [R] Cys [C]
rs144995574 synonymous 206 3 C T Ser [S] Ser [S]
rs10404506 synonymous 213 3 C T Ile [I] Ile [I]
rs114716391 synonymous 216 3 G T Ala [A] Ala [A]
rs151227241 synonymous 221 3 C T Tyr [Y] Tyr [Y]
rs141086188 missense 222 1 G A Ala [A] Thr [T]
rs146932786 synonymous 236 3 C T Phe [F] Phe [F]
rs28940288 missense 244 1 G A Gly [G] Arg [R]
rs137960127 synonymous 248 3 C T Ala [A] Ala [A]
rs61737367 synonymous 280 3 C T Arg [R] Arg [R]
rs145901144 missense 297 1 C T Arg [R] Cys [C]
rs187669174 synonymous 297 3 C T Arg [R] Arg [R]
rs138261404 missense 307 1 T C Tyr [Y] His [H]
rs139390622 synonymous 308 3 C T Asn [N] Asn [N]
rs144372407 missense 314 2 G A Arg [R] Gln [Q]
rs190858285 synonymous 316 3 G T Arg [R] Arg [R]
rs284652 synonymous 324 3 C T Phe [F] Phe [F]
rs112312448 frame shift 325 1 C None Leu [L] None
rs55940366 synonymous 325 3 C T Leu [L] Leu [L]
rs146300600 missense 344 2 C T Ala [A] Val [V]
rs182923857 missense 346 1 C T Arg [R] Cys [C]
rs139556493 missense 347 2 C T Ser [S] Leu [L]
rs144276456 synonymous 347 3 G A Ser [S] Ser [S]
rs185688419 missense 357 2 A G Gln [Q] Arg [R]
rs61736656 missense 361 1 A G Ile [I] Val [V]
rs190202447 synonymous 383 3 G A Arg [R] Arg [R]
rs139553536 missense 399 2 G A Arg [R] Gln [Q]
rs149722591 missense 403 2 C G Pro [P] Arg [R]
rs145595627 synonymous 403 3 C T Pro [P] Pro [P]
rs148090804 missense 404 2 A G Asn [N] Ser [S]
rs4674 synonymous 407 3 A C, G, T Leu [L] Leu [L], Leu [L], Leu [L]
rs147021347 synonymous 417 3 C T Pro [P] Pro [P]
rs34492894 synonymous 420 3 C T Leu [L] Leu [L]
rs141991700 missense 424 1 C A Gln [Q] Lys [K]
rs143065803 missense 429 2 G A Arg [R] His [H]
rs148224513 synonymous 443 3 C T Phe [F] Phe [F]

SNPdbe

Mutation Experimental evidence Disease
V3GNot validatedN/A
L17FNot validatedN/A
L17FNot validatedN/A
G29ENot validatedN/A
G29ENot validatedN/A
S36ANot validatedN/A
P39HNot validatedN/A
P39HNot validatedN/A
Q42RNot validatedN/A
Q42RNot validatedN/A
A59VNot validatedN/A
A59VNot validatedN/A
I62MNot validatedN/A
I62MNot validatedN/A
N71SNot validatedN/A
N71SNot validatedN/A
M82INot validatedN/A
M82LNot validatedN/A
M82INot validatedN/A
M82LNot validatedN/A
R117CNot validatedN/A
R117CNot validatedN/A
R127WNot validatedN/A
R127WNot validatedN/A
N150DNot validatedN/A
N150DNot validatedN/A
T151MNot validatedN/A
T151MNot validatedN/A
Q157ANot validatedN/A
Y158ANot validatedN/A
R159WNot validatedmaple syrup urine disease type ia (SwissVar)
R159ANot validatedN/A
P170SNot validatedN/A
P170SNot validatedN/A
Q190KNot validatedmaple syrup urine disease type ia (SwissVar)
R200CNot validatedN/A
R200CNot validatedN/A
S207ANot validatedN/A
L209ANot validatedN/A
T211ANot validatedN/A
T211MNot validatedN/A
A222TNot validatedN/A
A222TNot validatedN/A
E238ANot validatedN/A
G244RNot validatedN/A
G244RNot validatedN/A
A248DNot validatedN/A
G249SNot validatedN/A
G249SNot validatedN/A
A253TNot validatedmaple syrup urine disease type ia (SwissVar)
A253TNot validatedN/A
A254DNot validatedN/A
C264WNot validatedN/A
C264WNot validatedN/A
R265WNot validatedN/A
R265WNot validatedN/A
R265KNot validatedN/A
R265ANot validatedN/A
N267SNot validatedN/A
Y269ANot validatedN/A
A285PNot validatedN/A
G289RNot validatedN/A
G290RNot validatedmaple syrup urine disease type ia (SwissVar)
R296CNot validatedN/A
R297CNot validatedN/A
Y306HNot validatedN/A
Y307HNot validatedN/A
T309RNot validatedN/A
T310RNot validatedN/A
R313QNot validatedN/A
R314QNot validatedN/A
I326TNot validatedmaple syrup urine disease type ia (SwissVar)
H336ANot validatedN/A
S337DNot validatedN/A
A343VNot validatedN/A
A344VNot validatedN/A
R345CNot validatedN/A
S346LNot validatedN/A
R346CNot validatedN/A
S347LNot validatedN/A
W354FNot validatedN/A
Q356RNot validatedN/A
Q357RNot validatedN/A
I360VNot validatedN/A
I361VNot validatedN/A
E397KNot validatedN/A
E398KNot validatedN/A
R398QNot validatedN/A
R399QNot validatedN/A
P402RNot validatedN/A
P403RNot validatedN/A
N403SNot validatedN/A
N404SNot validatedN/A
F408CNot validatedN/A
F409CNot validatedmaple syrup urine disease type ia (SwissVar)
Y413CNot validatedmaple syrup urine disease type ia (SwissVar)
Q423KNot validatedN/A
Q424KNot validatedN/A
R428HNot validatedN/A
R429HNot validatedN/A
Y437NNot validatedN/A
Y438NNot validatedmaple syrup urine disease type ia (SwissVar)

OMIM

OMIM - BCKDHA
MutationPhenotype
Y393ASNMAPLE SYRUP URINE DISEASE, CLASSIC, TYPE IA
deletion(8) 887-894MAPLE SYRUP URINE DISEASE, CLASSIC, TYPE IA
G245RMAPLE SYRUP URINE DISEASE, INTERMEDIATE, TYPE IA
F364CMAPLE SYRUP URINE DISEASE, INTERMEDIATE, TYPE IA
R220WMAPLE SYRUP URINE DISEASE, CLASSIC, TYPE IA
G204SMAPLE SYRUP URINE DISEASE, CLASSIC, TYPE IA
T265RMAPLE SYRUP URINE DISEASE, CLASSIC, TYPE IA
C219WMAPLE SYRUP URINE DISEASE, CLASSIC, TYPE IA
deletion(1) 117CMAPLE SYRUP URINE DISEASE, CLASSIC, TYPE IA
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