(used for mutation description)
(last modified February 12, 2011)
This file was created to facilitate the description of sequence variants in the CHRND gene based on a coding DNA reference sequence following the HGVS recommendations. The sequence was taken from NG_008028.1, covering CHRND transcript NM_000751.1. The protein is N-terminally cleaved to obtain the mature CHRND protein, removing the signal peptide (amino acids 1-21). Publications describing variants in CHRND originally used the mature protein as a reference.
Please note that introns are available by clicking on the exon numbers above the sequence.
(upstream sequence)
g.5004
tggg c.-1
. . . . . | 02 . g.5325
ATGGAGGGGCCAGTGCTGACACTGGGGCTGCTGGCTGCCCTGGCGGTGTGTG | GCAGCTGG c.60
M E G P V L T L G L L A A L A V C G | S W p.20
. . . . . . g.5385
GGGCTGAACGAGGAGGAGCGGCTGATCCGGCACCTGTTTCAAGAGAAGGGCTACAACAAG c.120
G L N E E E R L I R H L F Q E K G Y N K p.40
. . . . . . g.5445
GAGCTCCGGCCCGTGGCACACAAAGAGGAGAGTGTGGACGTTGCCCTGGCCCTCACACTC c.180
E L R P V A H K E E S V D V A L A L T L p.60
. | 03 . . . . g.6231
TCCAACCTCATCTCCCTG | AAAGAAGTTGAGGAGACCCTCACTACCAATGTGTGGATAGAG c.240
S N L I S L | K E V E E T L T T N V W I E p.80
| 04 . . . . . . g.7107
CAC | GGCTGGACAGACAACCGGCTGAAGTGGAATGCTGAAGAATTTGGAAACATCAGTGTC c.300
H | G W T D N R L K W N A E E F G N I S V p.100
. . . . . | 05 . g.7296
CTGCGCCTCCCCCCGGACATGGTGTGGCTCCCAGAGATTGTGCTGGAGAACAA | CAATGAC c.360
L R L P P D M V W L P E I V L E N N | N D p.120
. . . . . . g.7356
GGCTCCTTCCAGATCTCCTACTCCTGCAACGTGCTTGTCTACCACTACGGCTTCGTGTAC c.420
G S F Q I S Y S C N V L V Y H Y G F V Y p.140
. . . . . . g.7416
TGGCTGCCACCTGCCATCTTCCGCTCCTCCTGCCCCATCTCTGTCACCTATTTCCCCTTC c.480
W L P P A I F R S S C P I S V T Y F P F p.160
. . | 06 . . . g.7681
GACTGGCAGAACTGCTCCCTCAAGTTCAG | TTCCCTCAAGTATACGGCCAAAGAGATCACC c.540
D W Q N C S L K F S | S L K Y T A K E I T p.180
. . . . . . g.7741
CTGAGCCTGAAACAGGATGCCAAGGAGAACCGCACCTACCCCGTGGAGTGGATCATCATT c.600
L S L K Q D A K E N R T Y P V E W I I I p.200
. | 07 . . . . g.8768
GATCCTGAAGGCTTCACAG | AGAACGGGGAGTGGGAGATAGTCCACCGGCCGGCCAGGGTC c.660
D P E G F T E | N G E W E I V H R P A R V p.220
. . . . . . g.8828
AACGTGGACCCCAGAGCCCCTCTGGACAGCCCCAGCCGCCAGGACATCACCTTCTACCTC c.720
N V D P R A P L D S P S R Q D I T F Y L p.240
. . . . . . g.8888
ATCATCCGCCGCAAGCCCCTCTTCTACATCATCAACATCCTGGTGCCCTGCGTGCTCATC c.780
I I R R K P L F Y I I N I L V P C V L I p.260
. . . . | 08 . . g.10160
TCCTTCATGGTCAACCTGGTCTTCTACCTACCGGCTGACA | GTGGTGAGAAGACATCAGTG c.840
S F M V N L V F Y L P A D S | G E K T S V p.280
. . . . . . g.10220
GCCATCTCGGTGCTCCTGGCTCAGTCTGTCTTCCTGCTGCTCATCTCCAAGCGTCTGCCT c.900
A I S V L L A Q S V F L L L I S K R L P p.300
. . . | 09 . . . g.10358
GCCACATCCATGGCCATCCCCCTTATCGGCAA | GTTCCTGCTCTTCGGCATGGTGCTGGTC c.960
A T S M A I P L I G K | F L L F G M V L V p.320
. . . . . . g.10418
ACCATGGTTGTGGTGATCTGTGTCATCGTGCTCAACATCCACTTCCGAACACCCAGCACC c.1020
T M V V V I C V I V L N I H F R T P S T p.340
. . | 10. . . . g.12752
CATGTGCTGTCTGAGGGGGTCAAGAAG | CTCTTCCTGGAGACCCTGCCGGAGCTCCTGCAC c.1080
H V L S E G V K K | L F L E T L P E L L H p.360
. . . . . . g.12812
ATGTCCCGCCCAGCAGAGGATGGACCCAGCCCTGGGGCCCTGGTGCGGAGGAGCAGCTCC c.1140
M S R P A E D G P S P G A L V R R S S S p.380
. . . . . . g.12872
CTGGGATACATCTCCAAGGCCGAGGAGTACTTCCTGCTCAAGTCCCGCAGTGACCTCATG c.1200
L G Y I S K A E E Y F L L K S R S D L M p.400
. . . . . | 11 . g.13020
TTCGAGAAGCAGTCAGAGCGGCATGGGCTGGCCAGGCGCCTCACCACTGCAC | GCCGGCCC c.1260
F E K Q S E R H G L A R R L T T A R | R P p.420
. . . . . . g.13080
CCAGCAAGCTCTGAGCAGGCCCAGCAGGAACTCTTCAATGAGCTGAAGCCAGCTGTGGAT c.1320
P A S S E Q A Q Q E L F N E L K P A V D p.440
. . . . . | 12 . g.13927
GGGGCAAACTTCATTGTTAACCACATGAGGGACCAGAACAATTACAATGAG | GAGAAAGAC c.1380
G A N F I V N H M R D Q N N Y N E | E K D p.460
. . . . . . g.13987
AGCTGGAACCGAGTGGCCCGCACAGTGGACCGCCTCTGCCTGTTTGTGGTGACGCCTGTC c.1440
S W N R V A R T V D R L C L F V V T P V p.480
. . . . . . g.14047
ATGGTGGTGGGCACAGCCTGGATCTTCCTGCAGGGCGTTTACAACCAGCCACCACCCCAG c.1500
M V V G T A W I F L Q G V Y N Q P P P Q p.500
. . . . . g.14101
CCTTTTCCTGGGGACCCCTACTCCTACAACGTGCAGGACAAGCGCTTCATCTAG c.1554
P F P G D P Y S Y N V Q D K R F I X p.517
. . . . . . g.14161
ggtgggcctgttggggagccaggagacagcagggtctgagagaggagccacagtccctaa c.*60
. . . . . . g.14221
tgacacccactcctagccctgaggctcgtgcccctcagactggggaagagtccaaggaag c.*120
. . . . . . g.14281
ggagggagcagccactcctcaatgctcaatggctcccctgaaatcaagacaggggccacc c.*180
g.14284
cga c.*183
(downstream sequence)
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