(used for mutation description)
(last modified May 1, 2014)
This file was created to facilitate the description of sequence variants in the SMARCAL1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000002.11, covering SMARCAL1 transcript NM_014140.3.
(upstream sequence)
. . . g.1030
atcattcttacttttggaagcgaaactgcg c.-301
. . . . . . g.1090
gccgcgttgcctgctgggaaatgtagttcagcggtggcctagcccttcaggcctggccgc c.-241
. . . . . . g.1150
tacaataaggctggcgaactcgcagcgcttgaatacccgtggcctaaccgtccactcgga c.-181
. . . . . . g.1210
agaccggtcccgctcgggaggctctgcagtcgcgcctggggtcagggccgggggcgaatg c.-121
. . . | 02 . . . g.2477
tggctcgcgttctaggcctccctgg | gttggaaaaagactatgttagcaagtgtcacgcca c.-61
. | 03 . . . . . g.3291
tg | cttttgccaactttccaattaaaggttgacattcctgcataagcatttctctgtgaaa c.-1
. . . . . . g.3351
ATGTCCTTGCCTCTTACAGAGGAGCAGAGGAAAAAGATTGAAGAGAATCGACAAAAGGCT c.60
M S L P L T E E Q R K K I E E N R Q K A p.20
. . . . . . g.3411
CTGGCCCGCAGAGCTGAGAAGTTATTGGCAGAACAGCATCAGAGGACTAGCTCGGGCACC c.120
L A R R A E K L L A E Q H Q R T S S G T p.40
. . . . . . g.3471
TCCATTGCTGGCAACCCATTCCAGGCCAAGCAAGGCCCATCCCAAAATTTCCCAAGGGAG c.180
S I A G N P F Q A K Q G P S Q N F P R E p.60
. . . . . . g.3531
TCTTGTAAGCCAGTGAGCCATGGTGTCATTTTCAAGCAACAGAATCTCAGTAGCTCATCT c.240
S C K P V S H G V I F K Q Q N L S S S S p.80
. . . . . . g.3591
AATGCTGACCAAAGACCTCATGATTCCCACAGTTTTCAGGCAAAGGGAATATGGAAAAAG c.300
N A D Q R P H D S H S F Q A K G I W K K p.100
. . . . . . g.3651
CCAGAAGAAATGCCCACAGCCTGCCCAGGCCACAGTCCACGTAGTCAAATGGCTCTCACT c.360
P E E M P T A C P G H S P R S Q M A L T p.120
. . . . . . g.3711
GGAATCTCTCCTCCCTTGGCACAAAGTCCTCCAGAGGTCCCTAAACAACAGCTCTTGAGT c.420
G I S P P L A Q S P P E V P K Q Q L L S p.140
. . . . . . g.3771
TATGAGTTAGGTCAAGGTCATGCTCAGGCTTCACCTGAGATCAGGTTCACACCCTTTGCT c.480
Y E L G Q G H A Q A S P E I R F T P F A p.160
. . . . . . g.3831
AACCCAACTCATAAGCCTCTGGCCAAACCAAAGAGTTCCCAAGAGACACCAGCTCATTCC c.540
N P T H K P L A K P K S S Q E T P A H S p.180
. . . . . . g.3891
TCTGGACAGCCTCCCAGGGATGCTAAGTTAGAGGCCAAGACAGCAAAAGCCTCCCCTTCG c.600
S G Q P P R D A K L E A K T A K A S P S p.200
. . . . . . g.3951
GGGCAGAACATTTCTTACATCCATTCTAGCTCAGAGAGTGTAACGCCCAGGACAGAAGGA c.660
G Q N I S Y I H S S S E S V T P R T E G p.220
. . . . . . g.4011
AGACTCCAGCAGAAGTCAGGGTCCTCAGTCCAAAAAGGAGTGAACTCTCAGAAGGGAAAG c.720
R L Q Q K S G S S V Q K G V N S Q K G K p.240
. . . . . . g.4071
TGCGTAAGGAACGGCGATCGTTTCCAGGTGTTGATTGGGTACAATGCGGAACTCATTGCA c.780
C V R N G D R F Q V L I G Y N A E L I A p.260
. . . | 04 . . . g.4872
GTGTTTAAGACCCTGCCCAGCAAGAATTATG | ATCCTGACACCAAGACGTGGAACTTCAGC c.840
V F K T L P S K N Y D | P D T K T W N F S p.280
. . | 05 . . . . g.8923
ATGAATGACTATAGTGCCCTGA | TGAAAGCAGCCCAGAGCCTCCCCACGGTCAACCTGCAG c.900
M N D Y S A L M | K A A Q S L P T V N L Q p.300
. . . . . . g.8983
CCTCTGGAATGGGCCTATGGCAGCAGCGAGTCACCCTCCACCAGCAGTGAGGGACAGGCC c.960
P L E W A Y G S S E S P S T S S E G Q A p.320
. . . . . . g.9043
GGCCTTCCATCAGCTCCATCCCTTTCATTTGTCAAAGGGCGATGCATGCTCATCTCCAGG c.1020
G L P S A P S L S F V K G R C M L I S R p.340
. . . . . . g.9103
GCCTACTTCGAGGCAGACATCAGTTATTCACAGGACCTTATTGCGCTTTTTAAACAGATG c.1080
A Y F E A D I S Y S Q D L I A L F K Q M p.360
. | 06 . . . . . g.12263
GATTCCAGAAGATATG | ATGTCAAGACCAGGAAGTGGAGCTTTCTCTTGGAAGAGCACAGT c.1140
D S R R Y D | V K T R K W S F L L E E H S p.380
| 07. . . . . . g.17235
AAACTAA | TTGCAAAGGTGCGCTGCCTCCCACAAGTTCAGCTGGACCCTCTGCCCACGACT c.1200
K L I | A K V R C L P Q V Q L D P L P T T p.400
. . . . . . g.17295
CTCACCCTGGCGTTTGCTTCTCAGCTCAAGAAGACATCTCTCAGTCTCACGCCAGATGTC c.1260
L T L A F A S Q L K K T S L S L T P D V p.420
. . . . . . g.17355
CCAGAGGCAGACCTTTCTGAAGTGGACCCCAAGCTCGTGTCTAATCTGATGCCCTTTCAG c.1320
P E A D L S E V D P K L V S N L M P F Q p.440
. | 08 . . . . . g.21350
AGAGCTGGAGTCAA | TTTTGCCATAGCCAAAGGAGGCCGCCTGCTGCTCGCTGACGACATG c.1380
R A G V N | F A I A K G G R L L L A D D M p.460
. . . . . . g.21410
GGCCTGGGGAAGACCATCCAAGCCATCTGCATCGCAGCCTTTTACCGGAAGGAGTGGCCG c.1440
G L G K T I Q A I C I A A F Y R K E W P p.480
. . . . | 09 . . g.23939
CTCCTGGTGGTGGTGCCATCCTCCGTGCGCTTCACCTGGGAGCAG | GCCTTCCTTCGGTGG c.1500
L L V V V P S S V R F T W E Q | A F L R W p.500
. . . . . . g.23999
CTGCCATCTCTGAGCCCAGATTGCATCAACGTCGTGGTGACTGGGAAGGACCGCCTGACA c.1560
L P S L S P D C I N V V V T G K D R L T p.520
. . . . . . g.24059
GCTGGCCTGATCAACATTGTCAGCTTTGACCTTCTTAGCAAGTTGGAAAAACAGCTAAAA c.1620
A G L I N I V S F D L L S K L E K Q L K p.540
. . | 10 . . . . g.27042
ACCCCTTTTAAAGTTGTCATCATT | GATGAATCTCACTTCCTCAAAAACAGTAGGACTGCC c.1680
T P F K V V I I | D E S H F L K N S R T A p.560
. . . | 11 . . . g.35634
CGCTGTCGAGCAGCTATGCCGGTCCTAAAG | GTTGCCAAGAGGGTGATCCTGTTGTCGGGC c.1740
R C R A A M P V L K | V A K R V I L L S G p.580
. . . . . . g.35694
ACACCAGCCATGTCCCGGCCCGCAGAGCTCTACACGCAGATCATCGCAGTCAAGCCAACT c.1800
T P A M S R P A E L Y T Q I I A V K P T p.600
. . . . . | 12 . g.39441
TTCTTCCCCCAGTTTCATGCCTTTGGACTTCGCTACTGTGATGCCAAACGG | ATGCCTTGG c.1860
F F P Q F H A F G L R Y C D A K R | M P W p.620
. . . . . . g.39501
GGGTGGGACTACTCAGGTTCCTCCAACCTGGGAGAGCTGAAGCTCCTGCTGGAGGAAGCA c.1920
G W D Y S G S S N L G E L K L L L E E A p.640
. . . . . . g.39561
GTCATGCTGCGGCGCCTCAAGTCCGACGTCCTTTCCCAGCTGCCTGCCAAGCAGCGCAAG c.1980
V M L R R L K S D V L S Q L P A K Q R K p.660
. . . . . . g.39621
ATAGTGGTGATTGCCCCAGGACGGATCAATGCCAGGACCAGAGCTGCCCTGGATGCTGCA c.2040
I V V I A P G R I N A R T R A A L D A A p.680
. . . | 13 . . . g.53213
GCCAAGGAAATGACCACCAAGGACAAAACT | AAACAGCAGCAGAAAGATGCCCTCATTCTC c.2100
A K E M T T K D K T | K Q Q Q K D A L I L p.700
. . . . | 14 . . g.56549
TTCTTCAACAGAACAGCTGAAGCTAAAATCCCATCTGTCAT | TGAATATATCTTGGACCTA c.2160
F F N R T A E A K I P S V I | E Y I L D L p.720
. . . . . . g.56609
CTGGAAAGTGGAAGAGAGAAGTTTTTAGTATTTGCACACCATAAGGTGGTCCTGGACGCA c.2220
L E S G R E K F L V F A H H K V V L D A p.740
. . | 15 . . . . g.63891
ATTACGCAAGAGCTTGAGAGAAAG | CACGTGCAGCACATCCGCATCGATGGCTCCACCTCA c.2280
I T Q E L E R K | H V Q H I R I D G S T S p.760
. . . . . . g.63951
TCAGCTGAGCGGGAGGACCTGTGCCAGCAGTTCCAACTGTCGGAGAGGCATGCTGTGGCC c.2340
S A E R E D L C Q Q F Q L S E R H A V A p.780
. . . . . . g.64011
GTGCTGTCCATCACCGCTGCCAATATGGGCCTCACCTTCTCCTCGGCTGACCTGGTGGTG c.2400
V L S I T A A N M G L T F S S A D L V V p.800
. . | 16. . . . g.65728
TTTGCTGAGCTGTTTTGGAACCCAGGG | GTGCTGATCCAGGCTGAGGACCGCGTGCACCGC c.2460
F A E L F W N P G | V L I Q A E D R V H R p.820
. . . . . . g.65788
ATTGGACAGACCAGCTCCGTGGGCATTCACTACCTCGTGGCAAAGGGCACAGCTGATGAC c.2520
I G Q T S S V G I H Y L V A K G T A D D p.840
| 17 . . . . . g.66841
TACCTTTG | GCCCCTGATTCAAGAGAAGATTAAAGTTCTGGCAGAAGCCGGGCTTTCTGAG c.2580
Y L W | P L I Q E K I K V L A E A G L S E p.860
. . . . | 18 . . g.71339
ACCAATTTTTCAGAAATGACAGAATCCACTGATTACCTCTACAAG | GACCCAAAGCAGCAG c.2640
T N F S E M T E S T D Y L Y K | D P K Q Q p.880
. . . . . . g.71399
AAGATCTACGACCTATTCCAGAAGTCCTTTGAGAAAGAAGGAAGTGATATGGAGCTCCTG c.2700
K I Y D L F Q K S F E K E G S D M E L L p.900
. . . . . . g.71459
GAAGCAGCAGAGTCCTTTGACCCAGGAAGTGCTTCAGGAACATCTGGAAGTAGTTCCCAG c.2760
E A A E S F D P G S A S G T S G S S S Q p.920
. . . . . . g.71519
AACATGGGAGACACCCTGGATGAAAGCTCATTGACAGCCAGTCCACAGAAGAAAAGGAGA c.2820
N M G D T L D E S S L T A S P Q K K R R p.940
. . . . g.71564
TTTGAATTTTTTGATAACTGGGACAGCTTTACGTCTCCCCTGTAA c.2865
F E F F D N W D S F T S P L X p.954
. . . . . . g.71624
aaggggcaaaaagaaaaaaataaaaagcattttaaaatcatggaattgaaataaaataat c.*60
. g.71640
gtattttgttttaaaa c.*76
(downstream sequence)
Legend:
Powered by LOVD v.2.0 Build 34
©2004-2014 Leiden University Medical Center