(used for mutation description)
(last modified July 12, 2010)
This file was created to facilitate the description of sequence variants in the POMGNT1 gene based on a coding DNA reference sequence following the HGVS recommendations. The sequence was taken from NG_009205.1, covering POMGNT1 transcript NM_017739.3.
Please note that introns are available by clicking on the exon numbers above the sequence.
(upstream sequence)
. . . . g.5044
gggccaggccggggcggggccgcaagcggcatggaggaggcgga c.-121
. . . . . . g.5104
ggccgcggcgagccgggccgagcagtgagggccctagcggggcccgagcggggcccgggg c.-61
. | 02 . . . . g.5628
cccctaagcc | attcctgaagtcatgggctggccaggacattggtgacccgccaatccggt c.-1
. . . . . . g.5688
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.5748
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.6425
| 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.6605
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.6665
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.7378
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.7438
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.7585
| 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.8494
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.8554
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.8806
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.8866
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.9077
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.9137
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.9545
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.9820
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.9880
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.10115
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.10264
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.10539
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.10908
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.11049
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.11109
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.11253
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.11313
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.12686
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.12948
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.13491
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.13551
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.13897
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.13957
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.14117
TTCCTGGTGGTGGGGGTCCCGGCTTCCCCCTACTC | AGTGAAGAAGCCACCCTCAGTCACC c.1920
F L V V G V P A S P Y S | V K K P P S V T p.640
. . . . . . g.14177
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.14180
TGA c.1983
X p.660
. . . . . . g.14240
gacctcctccaggaccctgcggggctgggtactgtgtacccccaggctggctagcccttc c.*60
. . . . . . g.14300
cctccatcctgtaggattttgtagatgctggtaggggctggggctaccttgtttttaaca c.*120
. . . . . . g.14360
tgagacttaattactaactccaaggggagggttcccctgctccaacaccccgttcctgag c.*180
. . . . . . g.14420
ttaaaagtctatttatttacttccttgttggagaagggcaggagagtacctgggaatcat c.*240
. . . . . . g.14480
tacgatccctagcagctcatcctgccctttgaataccctcactttccaggcctggctcag c.*300
. . . . . . g.14540
aatctaacctatttattgactgtcctgagggccttgaaaacaggccgaacctggagggcc c.*360
. . . . . . g.14600
tggatttctttttgggctggaatgctgccctgagggtggggctggctcttactcaggaaa c.*420
. . . . . . g.14660
ctgctgtgcccaacccatggacaggcccagctggggcccacatgctgacacagactcact c.*480
. . . . . . g.14720
cagagacccttagacactggaccaggcctcctctcagccttctctttgtccagatttcca c.*540
. . . . g.14769
aagctggataagttggtcattgattaaaaaaggagaagccctctgggga c.*589
(downstream sequence)
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