(used for mutation description)
(last modified July 20, 2012)
This file was created to facilitate the description of sequence variants on transcript NM_004493.2 in the HSD17B10 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000023.10, covering HSD17B10 transcript NM_004493.2.(upstream sequence) . . . g.5031 atccccatcccgtggagtggccggcgacaag c.-1 . . | 02. . . . g.5523 ATGGCAGCAGCGTGTCGGAGCGTGAAG | GGCCTGGTGGCGGTAATAACCGGAGGAGCCTCG c.60 M A A A C R S V K | G L V A V I T G G A S p.20 . . . . . . g.5583 GGCCTGGGCCTGGCCACGGCGGAGCGACTTGTGGGGCAGGGAGCCTCTGCTGTGCTTCTG c.120 G L G L A T A E R L V G Q G A S A V L L p.40 . . . . . . g.5643 GACCTGCCCAACTCGGGTGGGGAGGCCCAAGCCAAGAAGTTAGGAAACAACTGCGTTTTC c.180 D L P N S G G E A Q A K K L G N N C V F p.60 . | 03 . . . . . g.7012 GCCCCAGCCGAC | GTGACCTCTGAGAAGGATGTGCAAACAGCTCTGGCTCTAGCAAAAGGA c.240 A P A D | V T S E K D V Q T A L A L A K G p.80 . . . . . . g.7072 AAGTTTGGCCGTGTGGATGTAGCTGTCAACTGTGCAGGCATCGCGGTGGCTAGCAAGACG c.300 K F G R V D V A V N C A G I A V A S K T p.100 . . . . . | 04. g.7262 TACAACTTAAAGAAGGGCCAGACCCATACCTTGGAAGACTTCCAGCGAGTTCTTGAT | GTG c.360 Y N L K K G Q T H T L E D F Q R V L D | V p.120 . . . . . . g.7322 AATCTCATGGGCACCTTCAATGTGATCCGCCTGGTGGCTGGTGAGATGGGCCAGAATGAA c.420 N L M G T F N V I R L V A G E M G Q N E p.140 . . . . . . g.7382 CCAGACCAGGGAGGCCAACGTGGGGTCATCATCAACACTGCCAGTGTGGCTGCCTTCGAG c.480 P D Q G G Q R G V I I N T A S V A A F E p.160 | 05 . . . . . . g.7523 GGTCAG | GTTGGACAAGCTGCATACTCTGCTTCCAAGGGGGGAATAGTGGGCATGACACTG c.540 G Q | V G Q A A Y S A S K G G I V G M T L p.180 . . . . . | 06 . g.7786 CCCATTGCTCGGGATCTGGCTCCCATAGGTATCCGGGTGATGACCATTGCCCCAG | GTCTG c.600 P I A R D L A P I G I R V M T I A P G | L p.200 . . . . . . g.7846 TTTGGCACCCCACTGCTGACCAGCCTCCCAGAGAAAGTGTGCAACTTCTTGGCCAGCCAA c.660 F G T P L L T S L P E K V C N F L A S Q p.220 . . . . . . g.7906 GTGCCCTTCCCTAGCCGACTGGGTGACCCTGCTGAGTATGCTCACCTCGTACAGGCCATC c.720 V P F P S R L G D P A E Y A H L V Q A I p.240 . . . . . . g.7966 ATCGAGAACCCATTCCTCAATGGAGAGGTCATCCGGCTGGATGGGGCCATTCGTATGCAG c.780 I E N P F L N G E V I R L D G A I R M Q p.260 g.7972 CCTTGA c.786 P X p.261 . . . . . . g.8032 agggagaaggcagagaaaacacacgctcctctgcccttcctttccctggggtactactct c.*60 . . . . . . g.8092 ccagcttgggaggaagcccagtagccattttgtaactgcctaccagtcgccctctgtgcc c.*120 . . g.8118 taataaagtctctttttctcacagag c.*146 (downstream sequence)Legend:
Powered by LOVD v.3.0 Build beta-06
©2004-2012 Leiden University Medical Center