(used for mutation description)
(last modified May 1, 2014)
This file was created to facilitate the description of sequence variants in the STIM1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000011.9, covering STIM1 transcript NM_003156.3.
(upstream sequence)
. . g.1028
ctggacctgggcaccgccagccgcctgg c.-541
. . . . . . g.1088
gcacgggactgggcgggggcgctgacctcggcctaggaggcccaggatcccggagacgcc c.-481
. . . . . . g.1148
cgcgccctcaggaccctgcgggtcgcacgccctccccagcttctgctgctcgccgctctt c.-421
. . . . . . g.1208
cggcagggcgaggtcaggtgcccccttctcgcctctcttctcttctcttctcttcctcct c.-361
. . . . . . g.1268
ccacttctgtgcccgcggagactccggccgcccccttccgcaggggtgtagtaatctgcg c.-301
. . . . . . g.1328
gagctgacagcagccccgcagccaccctgcccgaagtctccggaagcggcacgagctcag c.-241
. . . . . . g.1388
gccgccgcagccccggcggacccactgttggacctgaggagccagccctcctcccgcacc c.-181
. . . . . . g.1448
caaacttggagcacttgacctttggctgttggagggggcaggctcgcgggtggctggaca c.-121
. . . . . . g.1508
gctgcggagccgcgagggcatcttgcctggagaccgtcggctgcactcccgggctcctgg c.-61
. . . . . . g.1568
ctttgcctctgggatcccgaggtgtccacatcagacgcatgttgactgagacctagagtc c.-1
. . . . . . g.1628
ATGGATGTATGCGTCCGTCTTGCCCTGTGGCTCCTCTGGGGACTCCTCCTGCACCAGGGC c.60
M D V C V R L A L W L L W G L L L H Q G p.20
. . . . . . g.1688
CAGAGCCTCAGCCATAGTCACAGTGAGAAGGCGACAGGAACCAGCTCGGGGGCCAACTCT c.120
Q S L S H S H S E K A T G T S S G A N S p.40
. | 02 . . . . g.112890
GAGGAGTCCACTGCAGCAG | AGTTTTGCCGAATTGACAAGCCCCTGTGTCACAGTGAGGAT c.180
E E S T A A E | F C R I D K P L C H S E D p.60
. . . . . . g.112950
GAGAAACTCAGCTTCGAGGCAGTCCGTAACATCCACAAACTGATGGACGATGATGCCAAT c.240
E K L S F E A V R N I H K L M D D D A N p.80
. . . | 03 . . . g.169200
GGTGATGTGGATGTGGAAGAAAGTGATGAG | TTCCTGAGGGAAGACCTCAATTACCATGAC c.300
G D V D V E E S D E | F L R E D L N Y H D p.100
. . . . . . g.169260
CCAACAGTGAAACACAGCACCTTCCATGGTGAGGATAAGCTCATCAGCGTGGAGGACCTG c.360
P T V K H S T F H G E D K L I S V E D L p.120
. . | 04 . . . . g.200858
TGGAAGGCATGGAAGTCATCAGAAG | TATACAATTGGACCGTGGATGAGGTGGTACAGTGG c.420
W K A W K S S E V | Y N W T V D E V V Q W p.140
. . . . . . g.200918
CTGATCACATATGTGGAGCTGCCTCAGTATGAGGAGACCTTCCGGAAGCTGCAGCTCAGT c.480
L I T Y V E L P Q Y E E T F R K L Q L S p.160
. | 05. . . . . g.204621
GGCCATGCCATGCCAAG | GCTGGCTGTCACCAACACCACCATGACAGGGACTGTGCTGAAG c.540
G H A M P R | L A V T N T T M T G T V L K p.180
. . . . . . g.204681
ATGACAGACCGGAGTCATCGGCAGAAGCTGCAGCTGAAGGCTCTGGATACAGTGCTCTTT c.600
M T D R S H R Q K L Q L K A L D T V L F p.200
. | 06 . . . . . g.215370
GGGCCTCCTCTCT | TGACTCGCCATAATCACCTCAAGGACTTCATGCTGGTGGTGTCTATC c.660
G P P L L | T R H N H L K D F M L V V S I p.220
. . . . . . g.215430
GTTATTGGTGTGGGCGGCTGCTGGTTTGCCTATATCCAGAACCGTTACTCCAAGGAGCAC c.720
V I G V G G C W F A Y I Q N R Y S K E H p.240
. . . . . . g.215490
ATGAAGAAGATGATGAAGGACTTGGAGGGGTTACACCGAGCTGAGCAGAGTCTGCATGAC c.780
M K K M M K D L E G L H R A E Q S L H D p.260
. | 07 . . . . . g.219848
CTTCAGGAAAG | GCTGCACAAGGCCCAGGAGGAGCACCGCACAGTGGAGGTGGAGAAGGTC c.840
L Q E R | L H K A Q E E H R T V E V E K V p.280
. . . . . . g.219908
CATCTGGAAAAGAAGCTGCGCGATGAGATCAACCTTGCTAAGCAGGAAGCCCAGCGGCTG c.900
H L E K K L R D E I N L A K Q E A Q R L p.300
. . . . . . g.219968
AAGGAGCTGCGGGAGGGTACTGAGAATGAGCGGAGCCGCCAAAAATATGCTGAGGAGGAG c.960
K E L R E G T E N E R S R Q K Y A E E E p.320
| 08 . . . . . g.227532
TTGGAGCAG | GTTCGGGAGGCCTTGAGGAAAGCAGAGAAGGAGCTAGAATCTCACAGCTCA c.1020
L E Q | V R E A L R K A E K E L E S H S S p.340
. . . . . . g.227592
TGGTATGCTCCAGAGGCCCTTCAGAAGTGGCTGCAGCTGACACATGAGGTGGAGGTGCAA c.1080
W Y A P E A L Q K W L Q L T H E V E V Q p.360
. . . . . | 09. g.228182
TATTACAACATCAAGAAGCAAAATGCTGAGAAGCAGCTGCTGGTGGCCAAGGAGGGG | GCT c.1140
Y Y N I K K Q N A E K Q L L V A K E G | A p.380
. . . . . . g.228242
GAGAAGATAAAAAAGAAGAGAAACACACTCTTTGGCACCTTCCACGTGGCCCACAGCTCT c.1200
E K I K K K R N T L F G T F H V A H S S p.400
. . . | 10 . . g.228582
TCCCTGGATGATGTAGATCATAAAATTCTAACAGCTAA | GCAAGCACTGAGCGAGGTGACA c.1260
S L D D V D H K I L T A K | Q A L S E V T p.420
. . . . . . g.228642
GCAGCATTGCGGGAGCGCCTGCACCGCTGGCAACAGATCGAGATCCTCTGTGGCTTCCAG c.1320
A A L R E R L H R W Q Q I E I L C G F Q p.440
. . . . . . g.228702
ATTGTCAACAACCCTGGCATCCACTCACTGGTGGCTGCCCTCAACATAGACCCCAGCTGG c.1380
I V N N P G I H S L V A A L N I D P S W p.460
. . . . . . g.228762
ATGGGCAGTACACGCCCCAACCCTGCTCACTTCATCATGACTGACGACGTGGATGACATG c.1440
M G S T R P N P A H F I M T D D V D D M p.480
. . . | 11 . . . g.231800
GATGAGGAGATTGTGTCTCCCTTGTCCATGCAGT | CCCCTAGCCTGCAGAGCAGTGTTCGG c.1500
D E E I V S P L S M Q S | P S L Q S S V R p.500
. . . . | 12 . . g.236598
CAGCGCCTGACGGAGCCACAGCATGGCCTGGGATCTCAGAG | GGATTTGACCCATTCCGAT c.1560
Q R L T E P Q H G L G S Q R | D L T H S D p.520
. . . . . . g.236658
TCGGAGTCCTCCCTCCACATGAGTGACCGCCAGCGTGTGGCCCCCAAACCTCCTCAGATG c.1620
S E S S L H M S D R Q R V A P K P P Q M p.540
. . . . . . g.236718
AGCCGTGCTGCAGACGAGGCTCTCAATGCCATGACTTCCAATGGCAGCCACCGGCTGATC c.1680
S R A A D E A L N A M T S N G S H R L I p.560
. . . . . . g.236778
GAGGGGGTCCACCCAGGGTCTCTGGTGGAGAAACTGCCTGACAGCCCTGCCCTGGCCAAG c.1740
E G V H P G S L V E K L P D S P A L A K p.580
. . . . . . g.236838
AAGGCATTACTGGCGCTGAACCATGGGCTGGACAAGGCCCACAGCCTGATGGAGCTGAGC c.1800
K A L L A L N H G L D K A H S L M E L S p.600
. . . . . . g.236898
CCCTCAGCCCCACCTGGTGGCTCTCCACATTTGGATTCTTCCCGTTCTCACAGCCCCAGC c.1860
P S A P P G G S P H L D S S R S H S P S p.620
. . . . . . g.236958
TCCCCAGACCCAGACACACCATCTCCAGTTGGGGACAGCCGAGCCCTGCAAGCCAGCCGA c.1920
S P D P D T P S P V G D S R A L Q A S R p.640
. . . . . . g.237018
AACACACGCATTCCCCACCTGGCTGGCAAGAAGGCTGTGGCTGAGGAGGATAATGGCTCT c.1980
N T R I P H L A G K K A V A E E D N G S p.660
. . . . . . g.237078
ATTGGCGAGGAAACAGACTCCAGCCCAGGCCGGAAGAAGTTTCCCCTCAAAATCTTTAAG c.2040
I G E E T D S S P G R K K F P L K I F K p.680
. g.237096
AAGCCTCTTAAGAAGTAG c.2058
K P L K K X p.685
. . . . . . g.237156
gcaggatggggtggcagtaaagggacagcttgtccttccctgggtgttctgtctctcctt c.*60
. . . . . . g.237216
ccctcccttccttcaagataactggccccaagagtggggcatgggaagggctggtccagg c.*120
. . . . . . g.237276
ggtctgggcactgtacatacctgccccctcatccttgggtccttcattattatttattaa c.*180
. . . . . . g.237336
ctgaccaccatggcctgcctgccctgcctccgtcccaaccatgggctgctgctgtcactc c.*240
. . . . . . g.237396
cctctccacttcagtgcatgtcttagttgctgttccctcagctcccagctccacctctgg c.*300
. . . . . . g.237456
ggttcagcttctgtctctgctgtcccagttttgaggtttggtttcttgtttctgtctctt c.*360
. . . . . . g.237516
gctttcgggctcctccctcccaccactccccaacttcccctagcagttgcagggaagata c.*420
. . . . . . g.237576
ggacgagtagcttctgacatgtgtgcctcagatctgttccaccccactcacagtggttct c.*480
. . . . . . g.237636
gtttgctccagactggggctagggcctaatctttgaagtttgttctttggtattgatgtg c.*540
. . . . . . g.237696
ggtcagaaggagcctcatcctaatctcactcaggcctccagggatccatgggggagtgaa c.*600
. . . . . . g.237756
accaattctcagagaacaacccaccagagacttttaaagagaggccaggcttgggaatgg c.*660
. . . . . . g.237816
gttgggagaggcatctgttcattggagcatgagtggatgccagaactgtaggttataagg c.*720
. . . . . . g.237876
cagtcactttttctctctactcccacccacacctgcctccctcttacccctgctccccca c.*780
. . . . . . g.237936
cactgcaggaggatttgtctctaagaggtgctgccccaaagctccccaagcatcaatact c.*840
. . . . . . g.237996
cctagggctcaggacaagtggctcccctggccaggagagccacagccatgatacagggct c.*900
. . . . . . g.238056
cttatggagccctggagttgttgggcaaggatgctgtcattttttgaaccaaaagacaaa c.*960
. . . . . . g.238116
caggttaaaaggaaaaaaagtaatctgaatttcccaagtgcctacgctgcatattcccct c.*1020
. . . . . . g.238176
tgttagatcccattttcatgttactttgtagccttggccagaggctcaaaaaggacacaa c.*1080
. . . . . . g.238236
ccagtttggggaaggggtggctaaggaagatggtataggtgaaggcggctgtgtgaccac c.*1140
. . . . . . g.238296
tttcccccacccttcccaccctctagacaactctctcccttacctgtttttgctatggct c.*1200
. . . . . . g.238356
gtaaaggtatttttcctctgccccactccctgccatacctttatcctgggatcctatttt c.*1260
. . . . . . g.238416
gggcctggggtgggtatacctggggctggtcttaggagggtgctaggctgcagactgcct c.*1320
. . . . . . g.238476
tgtactccctggacaccctcaaatggggttttctgtgttatttcataaaattctttgaag c.*1380
. . . g.238508
tccaataaagcatgtaggagattttaaccact c.*1412
(downstream sequence)
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