(used for mutation description)
(last modified April 30, 2014)
This file was created to facilitate the description of sequence variants in the CD79B gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000017.10, covering CD79B transcript NM_000626.2.(upstream sequence) . . . . | 02 . . g.354 CTCGTAGGTGTGATCTTCCTCCATGCCAGCCTTGCTGTCATC | CTTGTCCAGCAGCAGGAA c.60 L V G V I F L H A S L A V I | L V Q Q Q E p.20 . . . . . . g.414 GATAGGCACGATGATGAAGAGGATGATCAGCAGCGTCTGGATCATGATGATACCATCCTT c.120 D R H D D E E D D Q Q R L D H D D T I L p.40 . . . . | 03 . . g.659 CAGCGTGTTCCTCTGCTTCAGCTGTGCCAAGGTGCTGAATC | CCATGACTCGCAGCTCTGT c.180 Q R V P L L Q L C Q G A E S | H D S Q L C p.60 . . . . . . g.719 GCCGCAGCCCTGGTAGACCTCCGAGGTGTTGTTGCACTTCTGCTGACAGAAGTAGATGCC c.240 A A A L V D L R G V V A L L L T E V D A p.80 . . . . . . g.779 ATTGTCCTCAAACCGGATGCCTTGGATGGTGAGGGTGGCGAGAGATTCGTTCTGGGACTC c.300 I V L K P D A L D G E G G E R F V L G L p.100 . . . . . . g.839 TTCCATGCGGCCCTTTTCCAGCTTCAGCTGCTGGGGATTCTCGTCCATCTCCTGCTTCCA c.360 F H A A L F Q L Q L L G I L V H L L L P p.120 . . . . . . g.899 GAGCCAGCTCACATTGCCGGAGGCGCTGTTCATGTAGCAGTGCATTTTCACCGTGAAGCC c.420 E P A H I A G G A V H V A V H F H R E A p.140 . . . . . | 04 . g.1908 CCGTTTCCTGGCTATGAAACGTGGGCTCTGCCAGATCCGCGAACAAGCACTAC | CTTTGGG c.480 P F P G Y E T W A L P D P R T S T T | F G p.160 . . . . | 05 g.2777 ATTCCGGTACCGGTCCTCCGATCTGGCTGCTGGTACTGGCTCAG | CTGA c.528 I P V P V L R S G C W Y W L S | X p.175 . . . . . . g.2837 gagcagcagcagcaacgccaccatccagtggctgggcacaggagacaacgccagcctggc c.*60 . . . . . . g.2897 catggtcaccgctctgtccccgaccccaaacccgtgacaacgtccgaggctccttggagg c.*120 . . | 06 . . . . g.2957 aaaacgtgtaactgcaccggctgcag | t c.*147 (downstream sequence)Legend:
Powered by LOVD v.2.0 Build 34
©2004-2014 Leiden University Medical Center