(used for variant description)
(last modified May 7, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_002075.2 in the GNB3 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000012.11, covering GNB3 transcript NM_002075.2.(upstream sequence) . . . . g.5045 ccacaataggggcagacctgtccatccttctctgtgggtcccctg c.-361 . . . . . . g.5105 tacctttctcccccaacaggatcagacccagaggcagctggttggggtttgtcgagaaga c.-301 . . . . . . g.5165 aggattatccagatcagtcctttctaatctcagctcctgcctgtaccctcccatactcac c.-241 . . . . . | 02 . g.5673 caaaccctcttccccaccaccctgagctgaggagcacagtttgag | gcccccccaaccccc c.-181 . . . . . . g.5733 cgccggtcggggccaggccaggccaggccagctcctctggcagcagagcctgggcaggtg c.-121 . . . . . . g.5793 acgggcgggcgcgggcgtcgcagctgagggagtaaggaggctcccaggaaccggagctgg c.-61 . . . | 03 . . g.6077 aaacccggccgaggtccagccagagcccaa | gagccagagtgacccctcgacctgtcagcc c.-1 . . . . . | 04. g.6378 ATGGGGGAGATGGAGCAACTGCGTCAGGAAGCGGAGCAGCTCAAGAAGCAGATTGCA | GAT c.60 M G E M E Q L R Q E A E Q L K K Q I A | D p.20 . . . | 05 . . . g.7783 GCCAGGAAAGCCTGTGCTGACGTTACTCTGGCAGAG | CTGGTGTCTGGCCTAGAGGTGGTG c.120 A R K A C A D V T L A E | L V S G L E V V p.40 . . . . . . g.7843 GGACGAGTCCAGATGCGGACGCGGCGGACGTTAAGGGGACACCTGGCCAAGATTTACGCC c.180 G R V Q M R T R R T L R G H L A K I Y A p.60 . . | 06 . . . . g.8000 ATGCACTGGGCCACTGATTCTAA | GCTGCTGGTAAGTGCCTCGCAAGATGGGAAGCTGATC c.240 M H W A T D S K | L L V S A S Q D G K L I p.80 . . | 07. . . . g.8185 GTGTGGGACAGCTACACCACCAACAAG | GTGCACGCCATCCCACTGCGCTCCTCCTGGGTC c.300 V W D S Y T T N K | V H A I P L R S S W V p.100 . . . . . . g.8245 ATGACCTGTGCCTATGCCCCATCAGGGAACTTTGTGGCATGTGGGGGGCTGGACAACATG c.360 M T C A Y A P S G N F V A C G G L D N M p.120 . . . . . . g.8305 TGTTCCATCTACAACCTCAAATCCCGTGAGGGCAATGTCAAGGTCAGCCGGGAGCTTTCT c.420 C S I Y N L K S R E G N V K V S R E L S p.140 . | 08 . . . . . g.8471 GCTCACACAG | GTTATCTCTCCTGCTGCCGCTTCCTGGATGACAACAATATTGTGACCAGC c.480 A H T G | Y L S C C R F L D D N N I V T S p.160 . | 09. . . . . g.8609 TCGGGGGACACCACGTG | TGCCTTGTGGGACATTGAGACTGGGCAGCAGAAGACTGTATTT c.540 S G D T T C | A L W D I E T G Q Q K T V F p.180 . . . . . . g.8669 GTGGGACACACGGGTGACTGCATGAGCCTGGCTGTGTCTCCTGACTTCAATCTCTTCATT c.600 V G H T G D C M S L A V S P D F N L F I p.200 . . . . . . g.8729 TCGGGGGCCTGTGATGCCAGTGCCAAGCTCTGGGATGTGCGAGAGGGGACCTGCCGTCAG c.660 S G A C D A S A K L W D V R E G T C R Q p.220 . . . | 10 . . g.10396 ACTTTCACTGGCCACGAGTCGGACATCAACGCCATCTGT | TTCTTCCCCAATGGAGAGGCC c.720 T F T G H E S D I N A I C | F F P N G E A p.240 . . . . . . g.10456 ATCTGCACGGGCTCGGATGACGCTTCCTGCCGCTTGTTTGACCTGCGGGCAGACCAGGAG c.780 I C T G S D D A S C R L F D L R A D Q E p.260 . . . . . . g.10516 CTGATCTGCTTCTCCCACGAGAGCATCATCTGCGGCATCACGTCCGTGGCCTTCTCCCTC c.840 L I C F S H E S I I C G I T S V A F S L p.280 . . . . . . g.10576 AGTGGCCGCCTACTATTCGCTGGCTACGACGACTTCAACTGCAATGTCTGGGACTCCATG c.900 S G R L L F A G Y D D F N C N V W D S M p.300 . | 11 . . . . . g.11625 AAGTCTGAGCGTGTGG | GCATCCTCTCTGGCCACGATAACAGGGTGAGCTGCCTGGGAGTC c.960 K S E R V G | I L S G H D N R V S C L G V p.320 . . . . . . g.11685 ACAGCTGACGGGATGGCTGTGGCCACAGGTTCCTGGGACAGCTTCCTCAAAATCTGGAAC c.1020 T A D G M A V A T G S W D S F L K I W N p.340 g.11688 TGA c.1023 X p.340 . . . . . . g.11748 ggaggctggagaaagggaagtggaaggcagtgaacacactcagcagccccctgcccgacc c.*60 . . . . . . g.11808 ccatctcattcaggtgttctcttctatattccgggtgccattcccactaagctttctcct c.*120 . . . . . . g.11868 ttgagggcagtggggagcatgggactgtgcctttgggaggcagcatcagggacacagggg c.*180 . . . . . . g.11928 caaagaactgccccatctcctcccatggccttccctccccacagtcctcacagcctctcc c.*240 . . . . . . g.11988 cttaatgagcaaggacaacctgcccctccccagccctttgcaggcccagcagacttgagt c.*300 . . . . . . g.12048 ctgaggccccaggccctaggattcctcccccagagccactacctttgtccaggcctgggt c.*360 . . . . . . g.12108 ggtatagggcgtttggccctgtgactatggctctggcaccactagggtcctggccctctt c.*420 . . . . . . g.12168 cttattcatgctttctcctttttctacctttttttctctcctaagacacctgcaataaag c.*480 . g.12183 tgtagcaccctggta c.*495 (downstream sequence)Legend:
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