(used for variant description)
(last modified October 28, 2024)
This file was created to facilitate the description of sequence variants on transcript NM_000512.4 in the GALNS gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000016.9, covering GALNS transcript NM_000512.4.
(upstream sequence)
. . g.5029
aggccccgccccgcagcccagccggaagg c.-61
. . . . . . g.5089
gccggcggacgctcgctaggtcggctcgctggccggggctccgcggctcccgtggttgcc c.-1
. . . . . . g.5149
ATGGCGGCGGTTGTCGCGGCGACGAGGTGGTGGCAGCTGTTGCTGGTGCTCAGCGCCGCG c.60
M A A V V A A T R W W Q L L L V L S A A p.20
. . . . . . g.5209
GGGATGGGGGCCTCGGGCGCCCCGCAGCCCCCCAACATCCTGCTCCTGCTCATGGACGAC c.120
G M G A S G A P Q P P N I L L L L M D D p.40
| 02 . . . . . . g.19197
| ATGGGATGGGGTGACCTCGGGGTGTATGGAGAGCCCTCCAGAGAGACCCCGAATTTGGAC c.180
| M G W G D L G V Y G E P S R E T P N L D p.60
. . . . . . g.19257
CGGATGGCTGCAGAAGGGCTGCTTTTCCCAAACTTCTATTCTGCCAACCCTCTGTGCTCG c.240
R M A A E G L L F P N F Y S A N P L C S p.80
| 03 . . . . . . g.20051
CCAT | CGAGGGCGGCACTGCTCACAGGACGGCTACCCATCCGCAATGGCTTCTACACCACC c.300
P S | R A A L L T G R L P I R N G F Y T T p.100
. | 04 . . . . g.20913
AACGCCCATGCCAGAAACG | CCTACACACCGCAGGAGATTGTGGGCGGCATCCCAGACTCG c.360
N A H A R N A | Y T P Q E I V G G I P D S p.120
. . . . . . g.20973
GAGCAGCTCCTGCCGGAGCTTCTGAAGAAGGCCGGCTACGTCAGCAAGATTGTCGGCAAG c.420
E Q L L P E L L K K A G Y V S K I V G K p.140
| 05 . . . . . . g.24259
TG | GCATCTGGGTCACAGGCCCCAGTTCCACCCCCTGAAGCACGGATTTGATGAGTGGTTT c.480
W | H L G H R P Q F H P L K H G F D E W F p.160
. . . . . . g.24319
GGATCCCCCAACTGCCACTTTGGACCTTATGACAACAAGGCCAGGCCCAACATCCCTGTG c.540
G S P N C H F G P Y D N K A R P N I P V p.180
. . | 06 . . . . g.25733
TACAGGGACTGGGAGATGGTTGGCAG | ATATTATGAAGAATTTCCTATTAATCTGAAGACG c.600
Y R D W E M V G R | Y Y E E F P I N L K T p.200
. . . | 07 . . . g.26144
GGGGAAGCCAACCTCACCCAGATCTACCTGCAG | GAAGCCCTGGACTTCATTAAGAGACAG c.660
G E A N L T Q I Y L Q | E A L D F I K R Q p.220
. . . . . . g.26204
GCACGGCACCACCCCTTTTTCCTCTACTGGGCTGTCGACGCCACGCACGCACCCGTCTAT c.720
A R H H P F F L Y W A V D A T H A P V Y p.240
. . . | 08 . . g.26636
GCCTCCAAACCCTTCTTGGGCACCAGTCAGCGAGGGCG | GTATGGAGACGCCGTCCGGGAG c.780
A S K P F L G T S Q R G R | Y G D A V R E p.260
. . . . . . g.26696
ATTGATGACAGCATTGGGAAGATACTGGAGCTCCTCCAAGACCTGCACGTCGCGGACAAC c.840
I D D S I G K I L E L L Q D L H V A D N p.280
. . . . . | 09 g.29867
ACCTTCGTCTTCTTCACGTCGGACAACGGCGCTGCCCTCATTTCCGCCCCCGAACAAG | GT c.900
T F V F F T S D N G A A L I S A P E Q G | p.300
. . . . . . g.29927
GGCAGCAACGGCCCCTTTCTGTGTGGGAAGCAGACCACGTTTGAAGGAGGGATGAGGGAG c.960
G S N G P F L C G K Q T T F E G G M R E p.320
. . . . | 10 . . g.35146
CCTGCCCTCGCATGGTGGCCAGGGCACGTCACTGCAGGCCAG | GTGAGCCACCAGCTGGGC c.1020
P A L A W W P G H V T A G Q | V S H Q L G p.340
. . . . . . g.35206
AGCATCATGGACCTCTTCACCACCAGCCTGGCCCTTGCGGGCCTGACGCCGCCCAGCGAC c.1080
S I M D L F T T S L A L A G L T P P S D p.360
. . . . . | 11 g.37098
AGGGCCATTGATGGCCTCAACCTCCTCCCCACCCTCCTGCAGGGCCGGCTGATGGACAG | G c.1140
R A I D G L N L L P T L L Q G R L M D R | p.380
. . . . . . g.37158
CCTATCTTCTATTACCGTGGCGACACGCTGATGGCGGCCACCCTCGGGCAGCACAAGGCT c.1200
P I F Y Y R G D T L M A A T L G Q H K A p.400
. . . . | 12 . . g.39274
CACTTCTGGACCTGGACCAACTCCTGGGAGAACTTCAGACAG | GGCATTGATTTCTGCCCT c.1260
H F W T W T N S W E N F R Q | G I D F C P p.420
. . . . . . g.39334
GGGCAGAACGTTTCAGGGGTCACAACTCACAATCTGGAAGACCACACGAAGCTGCCCCTG c.1320
G Q N V S G V T T H N L E D H T K L P L p.440
. . . . | 13 . . g.43858
ATCTTCCACCTGGGACGGGACCCAGGGGAGAGGTTCCCCCTCAG | CTTTGCCAGCGCCGAG c.1380
I F H L G R D P G E R F P L S | F A S A E p.460
. . . . . . g.43918
TACCAGGAGGCCCTCAGCAGGATCACCTCGGTCGTCCAGCAGCACCAGGAGGCCTTGGTC c.1440
Y Q E A L S R I T S V V Q Q H Q E A L V p.480
. . . . | 14 . . g.47459
CCCGCGCAGCCCCAGCTCAACGTGTGCAACTGGGCGGTCATG | AACTGGGCACCTCCGGGC c.1500
P A Q P Q L N V C N W A V M | N W A P P G p.500
. . . . . . g.47519
TGTGAAAAGTTAGGGAAGTGTCTGACACCTCCAGAATCCATTCCCAAGAAGTGCCTCTGG c.1560
C E K L G K C L T P P E S I P K K C L W p.520
g.47528
TCCCACTAG c.1569
S H X p.522
. . . . . . g.47588
cacctgcgcagactcaggccaggcctagaatctccggttggccctgcaagtgcctggagg c.*60
. . . . . . g.47648
aaggatggctctggcctcggtcctcccccaaccctgcccaagccagacagacagcacctg c.*120
. . . . . . g.47708
cagacgcagggggactgcacaattccacctgcccaggacctgaccctggcgtgtgcttgg c.*180
. . . . . . g.47768
ccctcctcctcgcccacggcgcctcagatttcaggaccctcctcctcgcccacggcgcct c.*240
. . . . . . g.47828
cagacctcaggaccctgccgtctcacgcctttgtgaaccccaaatatctgagaccagtct c.*300
. . . . . . g.47888
cagtttattttgccaaggttaaggatgcacctgtgacagcctcaggaggtcctgacaaca c.*360
. . . . . . g.47948
ggtgcctgaggtggctggggatacagtttgcctttatacatcttagggagacacaagatc c.*420
. . . . . . g.48008
agtatgtgtatggcgtacattggttcagtcagccttccactgaatacacgattgagtctg c.*480
. . . . . . g.48068
gcccagtgaatccgcatttttatgtaaacagtaagggaacggggcaatcatataagcgtt c.*540
. . . . . . g.48128
tgtctcaggggagccccagagggatgacttccagttccgtctgtcctttgtccacaagga c.*600
. . . . . . g.48188
atttccctggacgctaattatgagggaggcgtgtagcttcttatcattgtaactatgtta c.*660
. . . . g.48233
tttagaaataaaacgggaggcaggtttgcctaattcccagcttga c.*705
(downstream sequence)
Legend:
Powered by LOVD v.3.0 Build 30b
©2004-2024 Leiden University Medical Center