(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)
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