(used for variant description)
(last modified July 19, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_004970.2 in the IGFALS gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_011778.1, covering IGFALS transcript NM_004970.2.
(upstream sequence)
. . g.5021
ggaaatccagagggcaggggt c.-61
. . . . . . g.5081
ggccggcacagcagacgtaccctccctcgctgcctgcctgcagcctgccctgcatgcagg c.-1
. | 02 . . . . . g.6376
ATGGCCCTGAGGAAAG | GAGGCCTGGCCCTGGCGCTGCTGCTGCTGTCCTGGGTGGCACTG c.60
M A L R K G | G L A L A L L L L S W V A L p.20
. . . . . . g.6436
GGCCCCCGCAGCCTGGAGGGAGCAGACCCCGGAACGCCGGGGGAAGCCGAGGGCCCAGCG c.120
G P R S L E G A D P G T P G E A E G P A p.40
. . . . . . g.6496
TGCCCGGCCGCCTGTGTCTGCAGCTACGATGACGACGCGGATGAGCTCAGCGTCTTCTGC c.180
C P A A C V C S Y D D D A D E L S V F C p.60
. . . . . . g.6556
AGCTCCAGGAACCTCACGCGCCTGCCTGATGGAGTCCCGGGCGGCACCCAAGCCCTGTGG c.240
S S R N L T R L P D G V P G G T Q A L W p.80
. . . . . . g.6616
CTGGACGGCAACAACCTCTCGTCCGTCCCCCCGGCAGCCTTCCAGAACCTCTCCAGCCTG c.300
L D G N N L S S V P P A A F Q N L S S L p.100
. . . . . . g.6676
GGCTTCCTCAACCTGCAGGGCGGCCAGCTGGGCAGCCTGGAGCCACAGGCGCTGCTGGGC c.360
G F L N L Q G G Q L G S L E P Q A L L G p.120
. . . . . . g.6736
CTAGAGAACCTGTGCCACCTGCACCTGGAGCGGAACCAGCTGCGCAGCCTGGCACTCGGC c.420
L E N L C H L H L E R N Q L R S L A L G p.140
. . . . . . g.6796
ACGTTTGCACACACGCCCGCGCTGGCCTCGCTCGGCCTCAGCAACAACCGTCTGAGCAGG c.480
T F A H T P A L A S L G L S N N R L S R p.160
. . . . . . g.6856
CTGGAGGACGGGCTCTTCGAGGGCCTCGGCAGCCTCTGGGACCTCAACCTCGGCTGGAAT c.540
L E D G L F E G L G S L W D L N L G W N p.180
. . . . . . g.6916
AGCCTGGCGGTGCTCCCCGATGCGGCGTTCCGCGGCCTGGGCAGCCTGCGCGAGCTGGTG c.600
S L A V L P D A A F R G L G S L R E L V p.200
. . . . . . g.6976
CTGGCGGGCAACAGGCTGGCCTACCTGCAGCCCGCGCTCTTCAGCGGCCTGGCCGAGCTC c.660
L A G N R L A Y L Q P A L F S G L A E L p.220
. . . . . . g.7036
CGGGAGCTGGACCTGAGCAGGAACGCGCTGCGGGCCATCAAGGCAAACGTGTTCGTGCAG c.720
R E L D L S R N A L R A I K A N V F V Q p.240
. . . . . . g.7096
CTGCCCCGGCTCCAGAAACTCTACCTGGACCGCAACCTCATCGCTGCCGTGGCCCCGGGC c.780
L P R L Q K L Y L D R N L I A A V A P G p.260
. . . . . . g.7156
GCCTTCCTGGGCCTGAAGGCGCTGCGATGGCTGGACCTGTCCCACAACCGCGTGGCTGGC c.840
A F L G L K A L R W L D L S H N R V A G p.280
. . . . . . g.7216
CTCCTGGAGGACACGTTCCCCGGTCTGCTGGGCCTGCGTGTGCTGCGGCTGTCCCACAAC c.900
L L E D T F P G L L G L R V L R L S H N p.300
. . . . . . g.7276
GCCATCGCCAGCCTGCGGCCCCGCACCTTCAAGGACCTGCACTTCCTGGAGGAGCTGCAG c.960
A I A S L R P R T F K D L H F L E E L Q p.320
. . . . . . g.7336
CTGGGCCACAACCGCATCCGGCAGCTGGCTGAGCGCAGCTTTGAGGGCCTGGGGCAGCTT c.1020
L G H N R I R Q L A E R S F E G L G Q L p.340
. . . . . . g.7396
GAGGTGCTCACGCTAGACCACAACCAGCTCCAGGAGGTCAAGGCGGGCGCTTTCCTCGGC c.1080
E V L T L D H N Q L Q E V K A G A F L G p.360
. . . . . . g.7456
CTCACCAACGTGGCGGTCATGAACCTCTCTGGGAACTGTCTCCGGAACCTTCCGGAGCAG c.1140
L T N V A V M N L S G N C L R N L P E Q p.380
. . . . . . g.7516
GTGTTCCGGGGCCTGGGCAAGCTGCACAGCCTGCACCTGGAGGGCAGCTGCCTGGGACGC c.1200
V F R G L G K L H S L H L E G S C L G R p.400
. . . . . . g.7576
ATCCGCCCGCACACCTTCACCGGCCTCTCGGGGCTCCGCCGACTCTTCCTCAAGGACAAC c.1260
I R P H T F T G L S G L R R L F L K D N p.420
. . . . . . g.7636
GGCCTCGTGGGCATTGAGGAGCAGAGCCTGTGGGGGCTGGCGGAGCTGCTGGAGCTCGAC c.1320
G L V G I E E Q S L W G L A E L L E L D p.440
. . . . . . g.7696
CTGACCTCCAACCAGCTCACGCACCTGCCCCACCGCCTCTTCCAGGGCCTGGGCAAGCTG c.1380
L T S N Q L T H L P H R L F Q G L G K L p.460
. . . . . . g.7756
GAGTACCTGCTGCTCTCCCGCAACCGCCTGGCAGAGCTGCCGGCGGACGCCCTGGGCCCC c.1440
E Y L L L S R N R L A E L P A D A L G P p.480
. . . . . . g.7816
CTGCAGCGGGCCTTCTGGCTGGACGTCTCGCACAACCGCCTGGAGGCATTGCCCAACAGC c.1500
L Q R A F W L D V S H N R L E A L P N S p.500
. . . . . . g.7876
CTCTTGGCACCACTGGGGCGGCTGCGCTACCTCAGCCTCAGGAACAACTCACTGCGGACC c.1560
L L A P L G R L R Y L S L R N N S L R T p.520
. . . . . . g.7936
TTCACGCCGCAGCCCCCGGGCCTGGAGCGCCTGTGGCTGGAGGGTAACCCCTGGGACTGT c.1620
F T P Q P P G L E R L W L E G N P W D C p.540
. . . . . . g.7996
GGCTGCCCTCTCAAGGCGCTGCGGGACTTCGCCCTGCAGAACCCCAGTGCTGTGCCCCGC c.1680
G C P L K A L R D F A L Q N P S A V P R p.560
. . . . . . g.8056
TTCGTCCAGGCCATCTGTGAGGGGGACGATTGCCAGCCGCCCGCGTACACCTACAACAAC c.1740
F V Q A I C E G D D C Q P P A Y T Y N N p.580
. . . . . . g.8116
ATCACCTGTGCCAGCCCGCCCGAGGTCGTGGGGCTCGACCTGCGGGACCTCAGCGAGGCC c.1800
I T C A S P P E V V G L D L R D L S E A p.600
. g.8134
CACTTTGCTCCCTGCTGA c.1818
H F A P C X p.605
. . . . . . g.8194
ccaggtccccggactcaagccccggactcaggcccccacctggctcaccttgtgctgggg c.*60
. . . . . . g.8254
acaggtcctcagtgtcctcaggggcctgcccagtgcacttgctggaagacgcaagggcct c.*120
. . . . . . g.8314
gatggggtggaaggcatggcggcccccccagctgtcatcaattaaaggcaaaggcaatcg c.*180
g.8321
aatctaa c.*187
(downstream sequence)
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