(used for mutation description)
(last modified May 2, 2014)
This file was created to facilitate the description of sequence variants in the FERMT3 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000011.9, covering FERMT3 transcript NM_031471.5.
(upstream sequence)
. . g.1029
ccgccctgctcgtgataaggcacaagcaa c.-121
. . . . . . g.1089
gggctgccctgaaggaagctccaaagagaaaggagggcaggaagcccacggcccacaggg c.-61
. . . . . | 02 . g.1685
gtgtagcccgagacccacctgcagcccccagcccttgccaggaaag | cagcagccgcagcc c.-1
. . . . . . g.1745
ATGGCGGGGATGAAGACAGCCTCCGGGGACTACATCGACTCGTCATGGGAGCTGCGGGTG c.60
M A G M K T A S G D Y I D S S W E L R V p.20
. . . . . . g.1805
TTTGTGGGAGAGGAGGACCCAGAGGCCGAGTCGGTCACCCTGCGGGTCACTGGGGAGTCG c.120
F V G E E D P E A E S V T L R V T G E S p.40
. . . . | 03 . . g.4951
CACATCGGCGGGGTGCTCCTGAAGATTGTGGAGCAGATCA | ATCGCAAGCAGGACTGGTCA c.180
H I G G V L L K I V E Q I N | R K Q D W S p.60
. . . . . . g.5011
GACCATGCTATTTGGTGGGAACAGAAGAGGCAGTGGCTGCTGCAGACCCACTGGACACTG c.240
D H A I W W E Q K R Q W L L Q T H W T L p.80
. . . . . . g.5071
GACAAGTACGGGATCCTGGCCGACGCACGCCTCTTCTTTGGGCCCCAGCACCGGCCCGTC c.300
D K Y G I L A D A R L F F G P Q H R P V p.100
. . . . . . g.5131
ATCCTTCGGTTGCCCAACCGCCGCGCACTGCGCCTCCGTGCCAGCTTCTCCCAGCCCCTC c.360
I L R L P N R R A L R L R A S F S Q P L p.120
. . . | 04 . . . g.5398
TTCCAGGCTGTGGCTGCCATCTGCCGCCTCCTCA | GCATCCGGCACCCCGAGGAGCTGTCC c.420
F Q A V A A I C R L L S | I R H P E E L S p.140
. . . . . . g.5458
CTGCTCCGGGCTCCTGAGAAGAAGGAGAAGAAGAAGAAAGAGAAGGAGCCAGAGGAAGAG c.480
L L R A P E K K E K K K K E K E P E E E p.160
. . . | 05 . . . g.5621
CTCTATGACTTGAGCAAGGTTGTCTTGGCTGGGG | GCGTGGCACCTGCACTGTTCCGGGGG c.540
L Y D L S K V V L A G G | V A P A L F R G p.180
. . . . . . g.5681
ATGCCAGCTCACTTCTCGGACAGCGCCCAGACTGAGGCCTGCTACCACATGCTGAGCCGG c.600
M P A H F S D S A Q T E A C Y H M L S R p.200
. . . . . . g.5741
CCCCAGCCGCCACCCGACCCCCTCCTGCTCCAGCGTCTGCCACGGCCCAGCTCCCTGTCA c.660
P Q P P P D P L L L Q R L P R P S S L S p.220
. . | 06 . . . . g.6002
GACAAGACCCAGCTCCACAGCAG | GTGGCTGGACTCGTCGCGGTGTCTCATGCAGCAGGGC c.720
D K T Q L H S R | W L D S S R C L M Q Q G p.240
. . . . . . g.6062
ATCAAGGCCGGGGACGCACTCTGGCTGCGCTTCAAGTACTACAGCTTCTTCGATTTGGAT c.780
I K A G D A L W L R F K Y Y S F F D L D p.260
| 07 . . . . . . g.13625
CCCAAG | ACAGACCCCGTGCGGCTGACACAGCTGTATGAGCAGGCCCGGTGGGACCTGCTG c.840
P K | T D P V R L T Q L Y E Q A R W D L L p.280
. . . . . | 08 . g.13850
CTGGAGGAGATTGACTGCACCGAGGAGGAGATGATGGTGTTTGCCGCCCTGCAG | TACCAC c.900
L E E I D C T E E E M M V F A A L Q | Y H p.300
. . . . . . g.13910
ATCAACAAGCTGTCCCAGAGCGGGGAGGTGGGGGAGCCGGCTGGCACAGACCCAGGGCTG c.960
I N K L S Q S G E V G E P A G T D P G L p.320
. . . . . . g.13970
GACGACCTGGATGTGGCCCTGAGCAACCTGGAGGTGAAGCTGGAGGGGTCGGCGCCCACA c.1020
D D L D V A L S N L E V K L E G S A P T p.340
| 09 . . . . | 10 g.14212
GATGTGCTG | GACAGCCTCACCACCATCCCAGAGCTCAAGGACCATCTCCGAATCTTTCG | G c.1080
D V L | D S L T T I P E L K D H L R I F R | p.360
. . . . . . g.14272
CCCCGGAAGCTGACCCTGAAGGGCTACCGCCAACACTGGGTGGTGTTCAAGGAGACCACA c.1140
P R K L T L K G Y R Q H W V V F K E T T p.380
. . . . . . g.14332
CTGTCCTACTACAAGAGCCAGGACGAGGCCCCTGGGGACCCCATTCAGCAGCTCAACCTC c.1200
L S Y Y K S Q D E A P G D P I Q Q L N L p.400
| 11 . . . . . . g.14596
AAGG | GCTGTGAGGTGGTTCCCGATGTTAACGTCTCCGGCCAGAAGTTCTGCATTAAACTC c.1260
K G | C E V V P D V N V S G Q K F C I K L p.420
. . . . . | 12 . g.14765
CTAGTGCCCTCCCCTGAGGGCATGAGTGAGATCTACCTGCGGTGCCAGGAT | GAGCAGCAG c.1320
L V P S P E G M S E I Y L R C Q D | E Q Q p.440
. . . . . . g.14825
TATGCCCGCTGGATGGCTGGCTGCCGCCTGGCCTCCAAAGGCCGCACCATGGCCGACAGC c.1380
Y A R W M A G C R L A S K G R T M A D S p.460
. . . . . . g.14885
AGCTACACCAGCGAGGTGCAGGCCATCCTGGCCTTCCTCAGCCTGCAGCGCACGGGCAGT c.1440
S Y T S E V Q A I L A F L S L Q R T G S p.480
. . . . . . g.14945
GGGGGCCCGGGCAACCACCCCCACGGCCCTGATGCCTCTGCCGAGGGCCTCAACCCCTAC c.1500
G G P G N H P H G P D A S A E G L N P Y p.500
. . . . | 13 . . g.15351
GGCCTCGTTGCCCCCCGTTTCCAGCGAAAGTTCAAGGCCAAGCAG | CTCACCCCACGGATC c.1560
G L V A P R F Q R K F K A K Q | L T P R I p.520
. . . . . . g.15411
CTGGAAGCCCACCAGAATGTGGCCCAGTTGTCGCTGGCAGAGGCCCAGCTGCGCTTCATC c.1620
L E A H Q N V A Q L S L A E A Q L R F I p.540
. . . . . | 14 . g.17378
CAGGCCTGGCAGTCCCTGCCCGACTTCGGCATCTCCTATGTCATGGTCAG | GTTCAAGGGC c.1680
Q A W Q S L P D F G I S Y V M V R | F K G p.560
. . . . . . g.17438
AGCAGGAAAGACGAGATCCTGGGCATCGCCAACAACCGACTGATCCGCATCGACTTGGCC c.1740
S R K D E I L G I A N N R L I R I D L A p.580
. . . . . . g.17498
GTGGGCGACGTGGTCAAGACCTGGCGTTTCAGCAACATGCGCCAGTGGAATGTCAACTGG c.1800
V G D V V K T W R F S N M R Q W N V N W p.600
. | 15 . . . . . g.17681
GACATCCGGCAG | GTGGCCATCGAGTTTGATGAACACATCAATGTGGCCTTCAGCTGCGTG c.1860
D I R Q | V A I E F D E H I N V A F S C V p.620
. . . . . . g.17741
TCTGCCAGCTGCCGAATTGTACACGAGTATATCGGGGGCTACATTTTCCTGTCGACGCGG c.1920
S A S C R I V H E Y I G G Y I F L S T R p.640
. . . . . . g.17801
GAGCGGGCCCGTGGGGAGGAGCTGGATGAAGACCTCTTCCTGCAGCTCACCGGGGGCCAT c.1980
E R A R G E E L D E D L F L Q L T G G H p.660
. g.17813
GAGGCCTTCTGA c.1992
E A F X p.663
. . . . . . g.17873
gggctgtctgattgcccctgccctgctcaccaccctgtcacagccactcccaagcccaca c.*60
. . . . . . g.17933
cccacaggggctcactgccccacacccgctccaggcaggcacccagctgggcatttcacc c.*120
. . . . . . g.17993
tgctgtcactgactttgtgcaggccaaggacctggcagggccagacgctgtaccatcacc c.*180
. . . . . . g.18053
caggccagggatgggggtgggggtccctgagctcatgtggtgccccctttccttgtctga c.*240
. . . . . . g.18113
gtggctgaggctgatacccctgacctatctgcagtcccccagcacacaaggaagaccaga c.*300
. . . . . . g.18173
tgtagctacaggatgatgaaacatggtttcaaacgagttctttcttgttactttttaaaa c.*360
. . . g.18212
tttcttttttataaattaatattttattgttggatcctc c.*399
(downstream sequence)
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