(used for variant description)
(last modified October 24, 2015)
This file was created to facilitate the description of sequence variants on transcript NM_001170961.1 in the IGSF1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_021190.2, covering IGSF1 transcript NM_001170961.1.
(upstream sequence)
. . . . g.115317
aggtgccaggcagagttggtgtaggtgggctccccgagcccgg c.-241
. . . . . . g.115377
cgcagggaggggaggaggttggggcgggccggcaggcgggcgggggagagaggaaggcgg c.-181
. . . . . . g.115437
ggctcagagccgaagaggctgtccttagacagctcttctcatgccgggcagtttgctgca c.-121
. . . . . . | 02 g.117969
tctggaggagctcactggagaatctccaacatcggagcgggccttcaactacc | atcccac c.-61
. . . . . . g.118029
cacctgctgaggagaaaaattcttcaagactcagagcacacagccagcaccagaggcccc c.-1
. . . . . . g.118089
ATGACCCTGGACAGACCAGGGGAGGGGGCCACCATGCTGAAGACATTCACTGTTTTGCTC c.60
M T L D R P G E G A T M L K T F T V L L p.20
. | 03 . . | 04. . . g.118678
TTTTGCATTC | GGATGAGTCTGGGTATGACATCGATAG | TGATGGACCCTCAACCGGAGTTG c.120
F C I R | M S L G M T S I V | M D P Q P E L p.40
. . . . . . g.118738
TGGATAGAGTCCAACTACCCCCAGGCCCCTTGGGAGAACATCACGCTTTGGTGCCGAAGC c.180
W I E S N Y P Q A P W E N I T L W C R S p.60
. . . . . . g.118798
CCCTCTCGGATATCAAGCAAGTTCCTGCTGCTGAAGGATAAGACACAGATGACCTGGATC c.240
P S R I S S K F L L L K D K T Q M T W I p.80
. . . . . . g.118858
CGCCCTTCCCACAAGACCTTCCAAGTTTCATTCCTTATAGGTGCCCTTACTGAGTCCAAT c.300
R P S H K T F Q V S F L I G A L T E S N p.100
. . . . . . g.118918
GCAGGTCTTTACCGGTGCTGCTACTGGAAGGAGACAGGCTGGTCAAAGCCCAGTAAAGTT c.360
A G L Y R C C Y W K E T G W S K P S K V p.120
. | 05 . . . . g.119278
CTAGAGTTGGAGGCACCAG | GCCAACTGCCCAAGCCCATCTTCTGGATTCAGGCTGAGACC c.420
L E L E A P G | Q L P K P I F W I Q A E T p.140
. . . . . . g.119338
CCCGCTCTTCCTGGGTGTAATGTTAACATCCTCTGCCATGGCTGGCTGCAGGATTTGGTA c.480
P A L P G C N V N I L C H G W L Q D L V p.160
. . . . . . g.119398
TTCATGCTGTTTAAAGAGGGATATGCAGAGCCTGTGGATTACCAAGTCCCAACTGGGACA c.540
F M L F K E G Y A E P V D Y Q V P T G T p.180
. . . . . . g.119458
ATGGCCATATTCTCCATTGACAACCTGACACCTGAGGATGAAGGGGTTTACATCTGCCGC c.600
M A I F S I D N L T P E D E G V Y I C R p.200
. . . . . . g.119518
ACTCATATCCAGATGCTCCCCACCCTGTGGTCAGAGCCCAGCAACCCCCTGAAGCTGGTT c.660
T H I Q M L P T L W S E P S N P L K L V p.220
| 06. . . . . . g.121492
GTAGCAG | GACTCTACCCCAAACCAACTTTGACAGCCCATCCTGGGCCCATCATGGCACCT c.720
V A G | L Y P K P T L T A H P G P I M A P p.240
. . . . . . g.121552
GGAGAAAGCCTGAATCTCAGGTGCCAAGGGCCAATCTATGGAATGACCTTTGCTCTAATG c.780
G E S L N L R C Q G P I Y G M T F A L M p.260
. . . . . . g.121612
AGGGTTGAAGACTTGGAGAAGTCCTTTTACCACAAGAAGACAATAAAAAATGAGGCAAAT c.840
R V E D L E K S F Y H K K T I K N E A N p.280
. . . . . . g.121672
TTCTTCTTCCAGTCTTTGAAGATCCAAGATACTGGACATTACCTCTGTTTTTACTATGAC c.900
F F F Q S L K I Q D T G H Y L C F Y Y D p.300
. . . . . | 07 . g.121974
GCATCATATAGAGGTTCACTCCTTAGTGATGTCCTGAAAATCTGGGTGACTG | ACACTTTC c.960
A S Y R G S L L S D V L K I W V T D | T F p.320
. . . . . . g.122034
CCCAAGACCTGGCTACTTGCTCGGCCCAGTGCTGTGGTCCAAATGGGTCAGAATGTGAGC c.1020
P K T W L L A R P S A V V Q M G Q N V S p.340
. . . . . . g.122094
CTACGGTGTCGAGGACCAGTGGATGGAGTGGGTCTTGCACTCTATAAGAAAGGAGAAGAC c.1080
L R C R G P V D G V G L A L Y K K G E D p.360
. . . . . . g.122154
AAACCACTTCAATTTTTGGATGCCACCAGCATCGATGACAACACATCATTCTTCCTCAAC c.1140
K P L Q F L D A T S I D D N T S F F L N p.380
. . . . . . g.122214
AATGTAACCTACAGTGATACTGGCATCTATAGCTGCCACTATCTTCTCACCTGGAAGACC c.1200
N V T Y S D T G I Y S C H Y L L T W K T p.400
. . . . | 08 . . g.122773
TCCATTAGGATGCCATCACACAACACTGTGGAGCTTATGGTTGTAG | ATAAGCCCCCCAAA c.1260
S I R M P S H N T V E L M V V D | K P P K p.420
. . . . . . g.122833
CCCTCCCTGTCAGCTTGGCCAAGCACTGTGTTCAAGCTAGGAAAGGCCATCACCCTTCAG c.1320
P S L S A W P S T V F K L G K A I T L Q p.440
. . . . . . g.122893
TGCCGAGTATCTCATCCAGTACTGGAATTTTCTCTGGAATGGGAAGAAAGAGAAACATTC c.1380
C R V S H P V L E F S L E W E E R E T F p.460
. . . . . . g.122953
CAAAAATTCTCAGTAAACGGAGACTTCATCATCAGTAATGTTGACGGGAAAGGCACAGGG c.1440
Q K F S V N G D F I I S N V D G K G T G p.480
. . . . . . g.123013
ACCTACAGTTGCAGCTATCGCGTAGAGACACATCCTAACATCTGGTCACATCGCAGTGAG c.1500
T Y S C S Y R V E T H P N I W S H R S E p.500
. . | 09 . . . . g.123400
CCCCTGAAGCTGATGGGGCCAGCAG | GCTATCTCACCTGGAATTACGTTCTGAATGAAGCT c.1560
P L K L M G P A G | Y L T W N Y V L N E A p.520
. . . . . . g.123460
ATCAGGTTGTCTCTAATCATGCAGCTTGTTGCCTTGCTGTTGGTAGTGCTGTGGATAAGG c.1620
I R L S L I M Q L V A L L L V V L W I R p.540
. . | 10 . . . . g.125396
TGGAAGTGTCGGAGACTCAGAATCAG | AGAAGCCTGGTTGCTGGGAACAGCTCAAGGGGTC c.1680
W K C R R L R I R | E A W L L G T A Q G V p.560
. . . | 11. . . g.125536
ACCATGCTCTTCATAGTCACGGCCCTTCTCTGCTGTG | CAATTTCTTTTGCAGGACTGTGC c.1740
T M L F I V T A L L C C A | I S F A G L C p.580
. . | 12 . . . . g.125987
AATGGGGTATTGATAGAAGAGACTG | AAATAGTCATGCCAACCCCTAAGCCTGAGCTGTGG c.1800
N G V L I E E T E | I V M P T P K P E L W p.600
. . . . . . g.126047
GCAGAGACCAACTTTCCTCTGGCCCCGTGGAAGAACTTAACCCTCTGGTGCAGAAGCCCT c.1860
A E T N F P L A P W K N L T L W C R S P p.620
. . . . . . g.126107
TCTGGCTCAACTAAGGAGTTTGTGTTGCTGAAGGATGGGACCGGGTGGATCGCCACTCGC c.1920
S G S T K E F V L L K D G T G W I A T R p.640
. . . . . . g.126167
CCGGCCTCAGAGCAGGTCCGGGCTGCCTTCCCCCTTGGCGCCCTGACCCAGAGCCACACC c.1980
P A S E Q V R A A F P L G A L T Q S H T p.660
. . . . . . g.126227
GGGAGCTACCACTGCCATTCATGGGAGGAGATGGCTGTATCGGAGCCCAGTGAGGCACTT c.2040
G S Y H C H S W E E M A V S E P S E A L p.680
. | 13 . . . . . g.126613
GAGCTGGTGGGGACAG | ACATCCTCCCCAAACCTGTCATTTCTGCTTCCCCCACAATCCGG c.2100
E L V G T D | I L P K P V I S A S P T I R p.700
. . . . . . g.126673
GGCCAGGAACTACAACTCCGGTGCAAAGGATGGCTGGCAGGCATGGGGTTTGCTCTGTAT c.2160
G Q E L Q L R C K G W L A G M G F A L Y p.720
. . . . . . g.126733
AAGGAGGGAGAGCAAGAACCTGTCCAGCAACTTGGTGCTGTTGGAAGAGAAGCCTTCTTT c.2220
K E G E Q E P V Q Q L G A V G R E A F F p.740
. . . . . . g.126793
ACAATCCAGAGAATGGAGGATAAAGACGAAGGCAATTACAGCTGCCGCACTCACACTGAA c.2280
T I Q R M E D K D E G N Y S C R T H T E p.760
. . . . . | 14 . g.127482
AAACGCCCCTTCAAGTGGTCTGAGCCCAGTGAGCCGCTGGAGCTTGTCATAAAAG | AAATG c.2340
K R P F K W S E P S E P L E L V I K E | M p.780
. . . . . . g.127542
TACCCTAAGCCCTTCTTCAAGACATGGGCCAGCCCTGTGGTCACCCCTGGTGCCCGAGTG c.2400
Y P K P F F K T W A S P V V T P G A R V p.800
. . . . . . g.127602
ACTTTCAATTGCTCCACCCCCCACCAGCATATGAGCTTTATTCTTTACAAAGATGGAAGT c.2460
T F N C S T P H Q H M S F I L Y K D G S p.820
. . . . . . g.127662
GAAATAGCATCCAGTGACAGGTCCTGGGCAAGTCCGGGGGCCAGTGCAGCTCACTTTCTA c.2520
E I A S S D R S W A S P G A S A A H F L p.840
. . . . . . g.127722
ATCATTTCGGTGGGCATTGGTGATGGAGGGAATTACAGCTGCCGATATTATGACTTTTCT c.2580
I I S V G I G D G G N Y S C R Y Y D F S p.860
. . . . | 15 . . g.128472
ATCTGGTCTGAGCCCAGCGACCCTGTGGAGCTCGTGGTGACAG | AATTCTACCCCAAACCC c.2640
I W S E P S D P V E L V V T E | F Y P K P p.880
. . . . . . g.128532
ACTCTCCTGGCACAGCCAGGTCCTGTGGTGTTTCCTGGGAAGAGTGTGATCCTGCGCTGC c.2700
T L L A Q P G P V V F P G K S V I L R C p.900
. . . . . . g.128592
CAAGGGACTTTCCAGGGCATGAGGTTCGCCCTCTTGCAGGAGGGAGCCCATGTTCCCTTA c.2760
Q G T F Q G M R F A L L Q E G A H V P L p.920
. . . . . . g.128652
CAGTTTCGGAGTGTCTCAGGGAACTCAGCTGACTTCCTTCTCCACACTGTTGGAGCAGAG c.2820
Q F R S V S G N S A D F L L H T V G A E p.940
. . . . . . g.128712
GACTCTGGGAACTATAGCTGTATCTACTATGAGACAACCATGTCAAACAGGGGGTCATAT c.2880
D S G N Y S C I Y Y E T T M S N R G S Y p.960
. . . | 16 . . . g.128967
CTCAGTATGCCCCTTATGATCTGGGTGACTG | ACACATTCCCTAAGCCATGGTTGTTTGCT c.2940
L S M P L M I W V T D | T F P K P W L F A p.980
. . . . . . g.129027
GAGCCCAGTTCTGTGGTTCCCATGGGGCAGAATGTTACTCTCTGGTGCCGAGGGCCGGTC c.3000
E P S S V V P M G Q N V T L W C R G P V p.1000
. . . . . . g.129087
CATGGAGTAGGATACATTCTGCACAAAGAAGGAGAAGCCACTTCAATGCAGCTCTGGGGA c.3060
H G V G Y I L H K E G E A T S M Q L W G p.1020
. . . . . . g.129147
TCCACCAGTAATGACGGGGCATTCCCCATCACCAATATATCTGGTACTAGCATGGGGCGT c.3120
S T S N D G A F P I T N I S G T S M G R p.1040
. . . . . . g.129207
TACAGCTGCTGCTACCACCCTGACTGGACCAGTTCTATCAAGATACAACCTAGCAACACC c.3180
Y S C C Y H P D W T S S I K I Q P S N T p.1060
. | 17 . . . . g.129458
CTGGAACTCCTAGTCACAG | GCTTACTCCCCAAACCCAGCCTATTAGCCCAGCCTGGTCCC c.3240
L E L L V T G | L L P K P S L L A Q P G P p.1080
. . . . . . g.129518
ATGGTGGCCCCTGGCGAAAATATGACTCTTCAGTGTCAAGGGGAACTGCCAGACTCAACA c.3300
M V A P G E N M T L Q C Q G E L P D S T p.1100
. . . . . . g.129578
TTTGTCCTGTTGAAGGAGGGGGCTCAGGAGCCTTTAGAGCAACAGAGGCCAAGTGGGTAC c.3360
F V L L K E G A Q E P L E Q Q R P S G Y p.1120
. . . . . . g.129638
AGGGCTGACTTCTGGATGCCAGCAGTGAGAGGTGAAGACTCTGGGATCTATAGCTGTGTT c.3420
R A D F W M P A V R G E D S G I Y S C V p.1140
. . . . . . g.129698
TATTATTTGGACTCTACTCCCTTTGCAGCTTCAAATCACAGTGACTCCCTGGAGATCTGG c.3480
Y Y L D S T P F A A S N H S D S L E I W p.1160
| 18. . . . . . g.129879
GTGACTG | ATAAGCCCCCTAAACCCTCTCTGTCAGCCTGGCCCAGCACCATGTTCAAGTTA c.3540
V T D | K P P K P S L S A W P S T M F K L p.1180
. . . . . . g.129939
GGGAAGGACATCACCCTTCAGTGCCGAGGACCCCTGCCAGGTGTTGAATTTGTCCTAGAA c.3600
G K D I T L Q C R G P L P G V E F V L E p.1200
. . . . . . g.129999
CATGATGGAGAAGAAGCACCTCAGCAGTTTTCAGAGGATGGAGACTTTGTCATCAACAAC c.3660
H D G E E A P Q Q F S E D G D F V I N N p.1220
. . . . . . g.130059
GTAGAAGGAAAAGGCATTGGAAACTACAGCTGCAGCTACCGCCTCCAGGCCTACCCTGAT c.3720
V E G K G I G N Y S C S Y R L Q A Y P D p.1240
. . . . | 19 . . g.130511
ATCTGGTCAGAGCCTAGTGATCCCCTGGAGCTGGTGGGGGCAGCAG | GGCCTGTTGCTCAG c.3780
I W S E P S D P L E L V G A A G | P V A Q p.1260
. . . . . . g.130571
GAGTGCACTGTAGGGAACATTGTCCGAAGTAGCCTAATCGTGGTGGTTGTTGTAGCCTTG c.3840
E C T V G N I V R S S L I V V V V V A L p.1280
. . . . . | 20 . g.130782
GGGGTAGTGCTAGCCATAGAGTGGAAGAAGTGGCCTCGACTGCGAACCAG | AGGCTCAGAG c.3900
G V V L A I E W K K W P R L R T R | G S E p.1300
. . . . . . g.130842
ACAGACGGAAGAGACCAGACCATTGCCCTTGAAGAGTGTAACCAAGAAGGAGAACCAGGC c.3960
T D G R D Q T I A L E E C N Q E G E P G p.1320
. . . . . . g.130902
ACCCCTGCCAATTCTCCTTCATCAACCTCTCAGAGAATCTCTGTGGAACTGCCCGTTCCA c.4020
T P A N S P S S T S Q R I S V E L P V P p.1340
g.130908
ATATAA c.4026
I X p.1341
. . . . . . g.130968
taatctcctcctttacaagagctttcctctcctctctcttgctctcagagacctataaat c.*60
. . . . . . g.131028
ccaaccagttaccctgcaagtcagccccatctgctgttccttggtctctaatcacctgag c.*120
. . . . . . g.131088
ctgggtaaaggggattctgggagttgagagctctgccagggtgagatgtttcctgaagag c.*180
. . . . . . g.131148
aggttccccacccctgtaactcctcactgtactgatttactggcgcatgaaattctatta c.*240
. . . . . g.131198
aaaatgcattcttctgaataaaaagagtattcactatttaacttcaaaaa c.*290
(downstream sequence)
Legend:
Powered by LOVD v.3.0 Build 14
©2004-2015 Leiden University Medical Center