(used for mutation description)
(last modified March 23, 2021)
This file was created to facilitate the description of sequence variants in the HGD gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from VERSION NC_000003.12, covering HGD transcript NM_000187.4.(upstream sequence) g.324 agtgaagc c.-121 . . . . . . g.384 gcagtgaagcagtgggaaccggaatatccaaagagtggtttgaaggagaaagaagcattg c.-61 . . . . . . g.444 tggctttatatcctctgggcctgggtttcctgaagtcaccacacatagaggagagagaaa c.-1 . | 02 . . . . . g.6737 ATGGCTGAGTTAAAG | TACATTTCTGGATTTGGGAATGAGTGTTCTTCAGAGGATCCTCGC c.60 M A E L K | Y I S G F G N E C S S E D P R p.20 . . | 03. . . . g.7599 TGCCCAGGTTCCCTGCCAGAAGGACAG | AATAATCCTCAGGTCTGCCCCTACAATCTCTAT c.120 C P G S L P E G Q | N N P Q V C P Y N L Y p.40 . . . . . | 04 . g.12027 GCTGAGCAGCTCTCAGGATCGGCTTTCACTTGTCCACGGAGCACCAATAAGAGAAG | CTGG c.180 A E Q L S G S A F T C P R S T N K R S | W p.60 . . . . . . g.12087 CTGTATAGGATTCTACCTTCAGTTTCTCACAAGCCCTTTGAATCCATTGACGAAGGCCAA c.240 L Y R I L P S V S H K P F E S I D E G Q p.80 . . . . | 05 . . g.29922 GTCACTCACAACTGGGATGAAGTTGATCCTGATCCTAACCAG | CTTAGATGGAAACCATTT c.300 V T H N W D E V D P D P N Q | L R W K P F p.100 . . . . | 06 . . g.31708 GAGATTCCAAAAGCATCTCAGAAGAAAGTAGACTTTGTGAGT | GGCCTGCATACCTTGTGT c.360 E I P K A S Q K K V D F V S | G L H T L C p.120 . . . . . . g.31768 GGAGCTGGAGACATAAAGTCTAACAATGGGCTTGCTATCCACATTTTCCTCTGCAATACC c.420 G A G D I K S N N G L A I H I F L C N T p.140 . | 07 . . . | 08 . g.35514 TCCATGGAGAACAG | ATGCTTTTACAATTCAGATGGGGACTTCTTGATTG | TTCCGCAGAAA c.480 S M E N R | C F Y N S D G D F L I V | P Q K p.160 . . . . . . g.35574 GGGAACCTTCTCATTTACACCGAGTTTGGCAAGATGCTTGTACAGCCCAATGAGATCTGC c.540 G N L L I Y T E F G K M L V Q P N E I C p.180 | 09 . . . . . g.36240 GTCATTCAG | AGAGGAATGCGGTTCAGCATAGATGTCTTTGAGGAGACCAGGGGCTACATC c.600 V I Q | R G M R F S I D V F E E T R G Y I p.200 . . . . | 10 . g.38123 TTGGAGGTCTATGGTGTCCACTTTGAGTTACCTGACCTTGGACCAATTG | GGGCCAATGGC c.660 L E V Y G V H F E L P D L G P I G | A N G p.220 . . . . . . g.38183 TTGGCCAATCCTCGTGATTTCTTGATACCCATTGCCTGGTATGAGGATCGCCAAGTACCA c.720 L A N P R D F L I P I A W Y E D R Q V P p.240 . . . . . | 11 . g.40868 GGTGGTTACACGGTCATTAATAAATACCAGGGCAAGCTGTTTGCTGCCAAACAG | GATGTC c.780 G G Y T V I N K Y Q G K L F A A K Q | D V p.260 . . . . . . g.40928 TCCCCGTTCAATGTTGTGGCCTGGCACGGGAATTATACACCCTACAAGTACAACCTGAAG c.840 S P F N V V A W H G N Y T P Y K Y N L K p.280 . . . | 12 . . g.43995 AATTTCATGGTTATCAACTCAGTGGCCTTTGACCATGCA | GACCCATCCATTTTCACAGTA c.900 N F M V I N S V A F D H A | D P S I F T V p.300 . . . . . . g.44055 TTGACTGCTAAGTCTGTCCGCCCTGGAGTGGCCATTGCTGATTTTGTCATCTTCCCACCT c.960 L T A K S V R P G V A I A D F V I F P P p.320 . . . . | 13 . . g.49241 CGATGGGGGGTTGCTGATAAGACCTTCAGGCCTCCTTATTACCATA | GGAACTGCATGAGT c.1020 R W G V A D K T F R P P Y Y H R | N C M S p.340 . . . . . . g.49301 GAGTTCATGGGACTCATCCGAGGTCACTATGAGGCAAAGCAAGGTGGGTTCCTGCCAGGG c.1080 E F M G L I R G H Y E A K Q G G F L P G p.360 . . . . . . g.49361 GGAGGGAGTCTACACAGCACAATGACCCCCCATGGACCTGATGCTGACTGCTTTGAGAAG c.1140 G G S L H S T M T P H G P D A D C F E K p.380 . . . . | 14 . g.54038 GCCAGCAAGGTCAAGCTGGCACCTGAGAGGATTGCCGATGGCACCATG | GCATTTATGTTT c.1200 A S K V K L A P E R I A D G T M | A F M F p.400 . . . . . . g.54098 GAATCATCTTTAAGTCTGGCGGTCACAAAGTGGGGACTCAAGGCCTCCAGGTGTTTGGAT c.1260 E S S L S L A V T K W G L K A S R C L D p.420 . . . . . . g.54158 GAGAACTACCACAAGTGCTGGGAGCCACTCAAGAGCCACTTCACTCCCAACTCCAGGAAC c.1320 E N Y H K C W E P L K S H F T P N S R N p.440 . g.54176 CCAGCAGAACCTAATTGA c.1338 P A E P N X p.445 . . . . . . g.54236 gactggaacattgctaccataattaagagtagatttgtgaagatttcttcagaatctcat c.*60 . . . . . . g.54296 gctttctggtagtattggaggagggggttggttaaaatgaaaattcacttttcatagtca c.*120 . . . . . . g.54356 agtaactcagaacttttatggaaacgcatttgcaaagttctatggctgtcaccttaatta c.*180 . . g.54384 ctcaataaacttgctggtgttctgtgga c.*208 (downstream sequence)Legend:
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