(used for variant description)
(last modified November 25, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_006899.3 in the IDH3B gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_012149.1, covering IDH3B transcript NM_006899.3.
(upstream sequence)
. . . g.5031
gtcacttcccacgcgacttcctgcgggaaac c.-1
. . . | 02 . . . g.5238
ATGGCGGCATTGAGCGGAGTCCGCTGGCTGACCCGA | GCGCTGGTCTCCGCCGGGAACCCT c.60
M A A L S G V R W L T R | A L V S A G N P p.20
. . . . . | 03. g.5464
GGGGCATGGAGAGGTCTGAGTACCTCGGCCGCGGCGCACGCTGCATCGCGGAGCCAG | GCC c.120
G A W R G L S T S A A A H A A S R S Q | A p.40
. . . . . . g.5524
GAGGACGTGAGGGTGGAGGGCTCCTTTCCCGTGACCATGCTTCCGGGAGACGGTGTGGGG c.180
E D V R V E G S F P V T M L P G D G V G p.60
. . . | 04 . . . g.5677
CCTGAGCTGATGCACGCCGTCAAGGAGGTGTTCAAG | GCTGCCGCTGTCCCAGTGGAGTTC c.240
P E L M H A V K E V F K | A A A V P V E F p.80
. . . . . . g.5737
CAGGAGCACCACCTGAGTGAGGTGCAGAATATGGCATCTGAGGAGAAGCTGGAGCAGGTG c.300
Q E H H L S E V Q N M A S E E K L E Q V p.100
. . . | 05. . . g.8273
CTGAGTTCCATGAAGGAGAACAAAGTGGCCATCATTG | GAAAGATTCATACCCCGATGGAG c.360
L S S M K E N K V A I I G | K I H T P M E p.120
. . . | 06 . . g.8412
TATAAGGGGGAGCTAGCCTCCTATGATATGCGGCTGAG | GCGTAAGTTGGACTTATTTGCC c.420
Y K G E L A S Y D M R L R | R K L D L F A p.140
. . . . . . g.8472
AACGTAGTCCATGTGAAGTCACTTCCTGGGTATATGACTCGGCACAACAATCTAGACCTG c.480
N V V H V K S L P G Y M T R H N N L D L p.160
. . . . . | 07 . g.8638
GTGATCATTCGAGAGCAGACAGAAGGGGAGTACAGCTCTCTGGAACATGAG | AGTGCAAGG c.540
V I I R E Q T E G E Y S S L E H E | S A R p.180
. . . . . . g.8698
GGTGTGATTGAGTGTTTGAAGATTGTCACACGAGCCAAGTCTCAGCGGATTGCAAAGTTC c.600
G V I E C L K I V T R A K S Q R I A K F p.200
. . . . . . g.8758
GCCTTTGACTATGCCACCAAGAAGGGGCGGGGCAAGGTCACTGCTGTCCACAAGGCCAAC c.660
A F D Y A T K K G R G K V T A V H K A N p.220
| 08 . . . . . . g.8909
ATCAT | GAAACTTGGGGATGGGTTGTTCCTGCAGTGCTGTGAGGAAGTTGCTGAACTGTAC c.720
I M | K L G D G L F L Q C C E E V A E L Y p.240
. . . . | 09 . g.9055
CCCAAAATCAAATTTGAGACAATGATCATAGACAACTGCTGCATGCAG | CTGGTGCAGAAT c.780
P K I K F E T M I I D N C C M Q | L V Q N p.260
. . . . . . g.9115
CCTTACCAGTTTGATGTGCTTGTGATGCCCAATCTCTATGGGAACATTATTGACAATCTG c.840
P Y Q F D V L V M P N L Y G N I I D N L p.280
. . . . . . g.9175
GCTGCTGGCCTGGTTGGGGGAGCTGGTGTGGTCCCTGGTGAGAGCTATAGTGCAGAATAC c.900
A A G L V G G A G V V P G E S Y S A E Y p.300
. | 10 . . . . . g.9471
GCAGTCTTTGAGACG | GGTGCCCGGCACCCATTTGCCCAGGCAGTGGGCAGGAATATAGCC c.960
A V F E T | G A R H P F A Q A V G R N I A p.320
. . . . . | 11 . g.9644
AATCCCACGGCCATGCTGCTGTCGGCTTCCAACATGCTGCGGCATCTTAA | TCTTGAGTAT c.1020
N P T A M L L S A S N M L R H L N | L E Y p.340
. . . . . | 12 . g.10391
CACTCCAGCATGATCGCAGATGCGGTGAAGAAGGTGATCAAAGTTGGCAAG | GTGCGGACT c.1080
H S S M I A D A V K K V I K V G K | V R T p.360
. . . . . . g.10451
CGAGACATGGGCGGCTACAGCACCACAACCGACTTCATCAAGTCTGTCATCGGTCACCTG c.1140
R D M G G Y S T T T D F I K S V I G H L p.380
. g.10469
CAGACTAAAGGGAGCTAG c.1158
Q T K G S X p.385
. . . . . . g.10529
agccctttatttcttccaaccttgcaaggaccacactccccatacccttcagtgcagtgt c.*60
. . . . . . g.10589
accagggaagagaccttgtgcctctaagcagtggaccatggtcaccttgctgggtagagc c.*120
. . . . . . g.10649
ctaggttgtccttgggccggcttccttaggggacagactgttgggtggtgatggggattg c.*180
. . . . . . g.10709
ttaggatggagcccaggccacatggatgatgatgattctcccccacaggttcgaacctct c.*240
. . . . . . g.10769
gacatgggtggctatgctacttgccatgacttcactgaggctgtcattgctgccttgccc c.*300
. . . . . g.10825
cacccataggccctgtccatacccatgtaaggtgttcaataaagaacatgaaccaa c.*356
(downstream sequence)
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