(used for variant description)
(last modified March 8, 2022)
This file was created to facilitate the description of sequence variants on transcript NM_017739.3 in the POMGNT1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000001.10, covering POMGNT1 transcript NM_017739.3.
(upstream sequence)
. . . . g.26900
gggccaggccggggcggggccgcaagcggcatggaggaggcgga c.-121
. . . . . . g.26960
ggccgcggcgagccgggccgagcagtgagggccctagcggggcccgagcggggcccgggg c.-61
. | 02 . . . . g.27484
cccctaagcc | attcctgaagtcatgggctggccaggacattggtgacccgccaatccggt c.-1
. . . . . . g.27544
ATGGACGACTGGAAGCCCAGCCCCCTCATCAAGCCCTTTGGGGCTCGGAAGAAGCGGAGC c.60
M D D W K P S P L I K P F G A R K K R S p.20
. . . . . . g.27604
TGGTACCTTACCTGGAAGTATAAACTGACAAACCAGCGGGCCCTGCGGAGATTCTGTCAG c.120
W Y L T W K Y K L T N Q R A L R R F C Q p.40
| 03 . . . . . . g.28281
| ACAGGGGCCGTGCTTTTCCTGCTGGTGACTGTCATTGTCAATATCAAGTTGATCCTGGAC c.180
| T G A V L F L L V T V I V N I K L I L D p.60
. . . . . | 04 . g.28461
ACTCGGCGAGCCATCAGTGAAGCCAATGAAGACCCAGAGCCAGAGCAAGACTATG | ATGAG c.240
T R R A I S E A N E D P E P E Q D Y D | E p.80
. . . . . . g.28521
GCCCTAGGCCGCCTGGAGCCCCCACGGCGCAGAGGCAGTGGTCCCCGGCGGGTCCTGGAC c.300
A L G R L E P P R R R G S G P R R V L D p.100
. . . . . | 05 . g.29234
GTAGAGGTGTATTCAAGTCGCAGCAAAGTATATGTGGCAGTGGATGGCACCACG | GTGCTG c.360
V E V Y S S R S K V Y V A V D G T T | V L p.120
. . . . . . g.29294
GAGGATGAGGCCCGGGAGCAGGGCCGGGGCATCCATGTCATTGTCCTCAACCAGGCCACG c.420
E D E A R E Q G R G I H V I V L N Q A T p.140
| 06 . . . . . . g.29441
| GGCCACGTGATGGCAAAACGTGTGTTTGACACGTACTCACCTCATGAGGATGAGGCCATG c.480
| G H V M A K R V F D T Y S P H E D E A M p.160
. . . . . | 07 . g.30350
GTGCTATTCCTCAACATGGTAGCGCCCGGCCGAGTGCTCATCTGCACTGTCAAG | GATGAG c.540
V L F L N M V A P G R V L I C T V K | D E p.180
. . . . . . g.30410
GGCTCCTTCCACCTCAAGGACACAGCCAAGGCTCTGCTGAGGAGCCTGGGCAGCCAGGCT c.600
G S F H L K D T A K A L L R S L G S Q A p.200
. . . . . | 08 . g.30662
GGCCCTGCCCTGGGCTGGAGGGACACATGGGCCTTCGTGGGACGAAAAGGAG | GTCCTGTC c.660
G P A L G W R D T W A F V G R K G G | P V p.220
. . . . . . g.30722
TTCGGGGAGAAACATTCTAAATCACCTGCCCTCTCTTCCTGGGGGGACCCAGTCCTGCTG c.720
F G E K H S K S P A L S S W G D P V L L p.240
. . . | 09 . . . g.30933
AAGACAGATGTGCCATTGAGCTCAGCAGAAG | AGGCAGAGTGCCACTGGGCAGACACAGAG c.780
K T D V P L S S A E E | A E C H W A D T E p.260
. . . . . . g.30993
CTGAACCGTCGCCGCCGGCGCTTCTGCAGCAAAGTTGAGGGCTATGGAAGTGTATGCAGC c.840
L N R R R R R F C S K V E G Y G S V C S p.280
. . . | 10 . . g.31401
TGCAAGGACCCCACACCCATCGAGTTCAGCCCTGACCCA | CTCCCAGACAACAAGGTCCTC c.900
C K D P T P I E F S P D P | L P D N K V L p.300
. . . . . | 11 . g.31676
AATGTGCCTGTGGCTGTCATTGCAGGGAACCGACCCAATTACCTGTACAG | GATGCTGCGC c.960
N V P V A V I A G N R P N Y L Y R | M L R p.320
. . . . . . g.31736
TCTCTGCTTTCAGCCCAGGGGGTGTCTCCTCAGATGATAACAGTTTTCATTGACGGCTAC c.1020
S L L S A Q G V S P Q M I T V F I D G Y p.340
| 12 . . . . . . g.31971
TATGAG | GAACCCATGGATGTGGTGGCACTGTTTGGTCTGAGGGGCATCCAGCATACTCCC c.1080
Y E | E P M D V V A L F G L R G I Q H T P p.360
. . . | 13 . . . g.32120
ATCAGCATCAAGAATGCCCGCGTGTCTCAG | CACTACAAGGCCAGCCTCACTGCCACTTTC c.1140
I S I K N A R V S Q | H Y K A S L T A T F p.380
. | 14 . . . . . g.32395
AACCTGTTTCCG | GAGGCCAAGTTTGCTGTGGTTCTGGAAGAGGACCTGGACATTGCTGTG c.1200
N L F P | E A K F A V V L E E D L D I A V p.400
. | 15 . . . . . g.32764
GATTTTTTCAG | TTTCCTGAGCCAATCCATCCACCTACTGGAGGAGGATGACAGCCTGTAC c.1260
D F F S | F L S Q S I H L L E E D D S L Y p.420
. . | 16 . . . . g.32905
TGCATCTCTGCCTGGAATGACCAG | GGGTATGAACACACGGCTGAGGACCCAGCACTACTG c.1320
C I S A W N D Q | G Y E H T A E D P A L L p.440
. . . . . . g.32965
TACCGTGTGGAGACCATGCCTGGGCTGGGCTGGGTGCTCAGGAGGTCCTTGTACAAGGAG c.1380
Y R V E T M P G L G W V L R R S L Y K E p.460
. . . | 17 . . . g.33109
GAGCTTGAGCCCAAGTGGCCTACACCGGAAAAG | CTCTGGGATTGGGACATGTGGATGCGG c.1440
E L E P K W P T P E K | L W D W D M W M R p.480
. . . . . . g.33169
ATGCCTGAACAACGCCGGGGCCGAGAGTGCATCATCCCTGACGTTTCCCGATCCTACCAC c.1500
M P E Q R R G R E C I I P D V S R S Y H p.500
. . . | 18 . . g.34542
TTTGGCATCGTCGGCCTCAACATGAATGGCTACTTTCAC | GAGGCCTACTTCAAGAAGCAC c.1560
F G I V G L N M N G Y F H | E A Y F K K H p.520
. . . . | 19 . . g.34804
AAGTTCAACACGGTTCCAGGTGTCCAGCTCAGGAATGTGGACAG | TCTGAAGAAAGAAGCT c.1620
K F N T V P G V Q L R N V D S | L K K E A p.540
. . | 20 . . . g.35347
TATGAAGTGGAAGTTCACAGGCTGCTCAG | TGAGGCTGAGGTTCTGGACCACAGCAAGAAC c.1680
Y E V E V H R L L S | E A E V L D H S K N p.560
. . . . . . g.35407
CCTTGTGAAGACTCTTTCCTGCCAGACACAGAGGGCCACACCTACGTGGCCTTTATTCGA c.1740
P C E D S F L P D T E G H T Y V A F I R p.580
. . . . | 21 . . g.35753
ATGGAGAAAGATGATGACTTCACCACCTGGACCCAGCTTGCCAAG | TGCCTCCATATCTGG c.1800
M E K D D D F T T W T Q L A K | C L H I W p.600
. . . . . . g.35813
GACCTGGATGTGCGTGGCAACCATCGGGGCCTGTGGAGATTGTTTCGGAAGAAGAACCAC c.1860
D L D V R G N H R G L W R L F R K K N H p.620
. . . | 22 . . . g.35973
TTCCTGATGGTGGGGGTCCCGGCTTCCCCCTACTC | AGTGAAGAAGCCACCCTCAGTCACC c.1920
F L M V G V P A S P Y S | V K K P P S V T p.640
. . . . . . g.36033
CCAATTTTCCTGGAGCCACCCCCAAAGGAGGAGGGAGCCCCAGGAGCCCCAGAACAGACA c.1980
P I F L E P P P K E E G A P G A P E Q T p.660
g.36036
TGA c.1983
X p.660
. . . . . . g.36096
gacctcctccaggaccctgcggggctgggtactgtgtacccccaggctggctagcccttc c.*60
. . . . . . g.36156
cctccatcctgtaggattttgtagatgctggtaggggctggggctaccttgtttttaaca c.*120
. . . . . . g.36216
tgagacttaattactaactccaaggggagggttcccctgctccaacaccccgttcctgag c.*180
. . . . . . g.36276
ttaaaagtctatttatttacttccttgttggagaagggcaggagagtacctgggaatcat c.*240
. . . . . . g.36336
tacgatccctagcagctcatcctgccctttgaataccctcactttccaggcctggctcag c.*300
. . . . . . g.36396
aatctaacctatttattgactgtcctgagggccttgaaaacaggccgaacctggagggcc c.*360
. . . . . . g.36456
tggatttctttttgggctggaatgctgccctgagggtggggctggctcttactcaggaaa c.*420
. . . . . . g.36516
ctgctgtgcccaacccatggacaggcccagctggggcccacatgctgacacagactcact c.*480
. . . . . . g.36576
cagagacccttagacactggaccaggcctcctctcagccttctctttgtccagatttcca c.*540
. . . . g.36625
aagctggataagttggtcattgattaaaaaaggagaagccctctgggga c.*589
(downstream sequence)
Legend:
Powered by LOVD v.3.0 Build 27
©2004-2022 Leiden University Medical Center