(used for mutation description)
(last modified October 25, 2012)
This file was created to facilitate the description of sequence variants in the ATL1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_009028.1, covering ATL1 transcript NM_015915.4.
(upstream sequence)
g.31944
a c.-241
. . . . . . g.32004
gggagggtgtgacgctggtatctgtgtgaactcgggcttgtgatgctgagcttggttcat c.-181
. . . . . . g.32064
ctgctttctcctcccttttcctccccactccttcccaccagcgccacagcaacatcctca c.-121
. . . . . . g.32124
gagtctgagcgaactgcgcccagcgcgggcacggagcctcccaccgccagcaacctgcgg c.-61
. . . . . . g.32184
ccccggagaaggcagcgagcgcagtgacagcgcctcaccgccaccagctcctggaccacc c.-1
. . . | 02 . . . g.59775
ATGGCCAAGAACCGCAGGGACAGAAACAGTTGGG | GTGGATTTTCGGAAAAGACATATGAA c.60
M A K N R R D R N S W G | G F S E K T Y E p.20
. . . . . . g.59835
TGGAGCTCAGAAGAGGAGGAGCCAGTGAAAAAGGCAGGACCAGTCCAAGTCCTCATTGTC c.120
W S S E E E E P V K K A G P V Q V L I V p.40
. . . . . . g.59895
AAAGATGACCATTCCTTTGAGTTAGATGAAACTGCATTAAATCGGATCCTTCTCTCGGAG c.180
K D D H S F E L D E T A L N R I L L S E p.60
. . . . . . g.59955
GCTGTCAGAGACAAGGAGGTTGTTGCTGTATCTGTTGCTGGAGCATTTAGAAAAGGAAAA c.240
A V R D K E V V A V S V A G A F R K G K p.80
. . . . | 03 . . g.62877
TCATTCCTGATGGACTTCATGTTGAGATACATGTACAACCAG | GAATCAGTTGATTGGGTT c.300
S F L M D F M L R Y M Y N Q | E S V D W V p.100
. . . . . . g.62937
GGAGACTACAATGAACCATTGACTGGTTTTTCATGGAGAGGTGGATCTGAGCGAGAGACC c.360
G D Y N E P L T G F S W R G G S E R E T p.120
. . . . . | 04. g.63456
ACAGGAATTCAGATATGGAGTGAAATCTTCCTTATCAATAAACCTGATGGTAAAAAG | GTT c.420
T G I Q I W S E I F L I N K P D G K K | V p.140
. . . . . . g.63516
GCAGTGTTATTGATGGATACTCAGGGAACCTTTGATAGTCAGTCAACTTTGAGAGATTCA c.480
A V L L M D T Q G T F D S Q S T L R D S p.160
. . . . | 05 . . g.65782
GCCACAGTATTTGCCCTTAGCACAATGATCAGCTCAATACAG | GTATATAACTTATCCCAA c.540
A T V F A L S T M I S S I Q | V Y N L S Q p.180
. . . | 06 . . . g.67521
AATGTCCAGGAGGATGATCTTCAGCACCTCCAG | CTTTTCACTGAGTATGGCAGACTGGCA c.600
N V Q E D D L Q H L Q | L F T E Y G R L A p.200
. . . | 07 . . . g.85207
ATGGAGGAAACATTCCTGAAGCCATTTCAG | AGTCTGATATTTCTTGTTCGAGACTGGAGT c.660
M E E T F L K P F Q | S L I F L V R D W S p.220
. . . . . . g.85267
TTCCCATACGAATTTTCATATGGAGCCGATGGTGGTGCCAAATTCTTGGAAAAACGCCTC c.720
F P Y E F S Y G A D G G A K F L E K R L p.240
| 08 . . . . . . g.86348
AAG | GTCTCAGGGAACCAGCATGAAGAACTACAGAACGTCAGAAAACACATCCATTCCTGT c.780
K | V S G N Q H E E L Q N V R K H I H S C p.260
. . . . . . g.86408
TTCACCAACATTTCCTGTTTTCTGCTACCTCATCCTGGCTTAAAAGTAGCTACCAATCCA c.840
F T N I S C F L L P H P G L K V A T N P p.280
. . | 09 . . . . g.92555
AACTTTGATGGAAAATTGAAAG | AAATAGATGATGAATTCATCAAAAACTTGAAAATACTG c.900
N F D G K L K E | I D D E F I K N L K I L p.300
. . . . . . g.92615
ATTCCTTGGCTACTTAGTCCCGAGAGCCTAGATATTAAAGAGATCAATGGGAATAAAATC c.960
I P W L L S P E S L D I K E I N G N K I p.320
. . . | 10 . . . g.93791
ACCTGCCGGGGTCTGGTGGAGTACTTCAAG | GCTTATATAAAGATCTATCAAGGTGAAGAA c.1020
T C R G L V E Y F K | A Y I K I Y Q G E E p.340
. . | 11. . . . g.95128
TTACCACATCCCAAATCCATGTTACAG | GCCACAGCAGAAGCTAACAATTTAGCAGCCGTG c.1080
L P H P K S M L Q | A T A E A N N L A A V p.360
. . . | 12 . . g.99970
GCAACTGCCAAGGACACATACAACAAAAAAATGGAAGAG | ATTTGTGGTGGTGACAAACCA c.1140
A T A K D T Y N K K M E E | I C G G D K P p.380
. . . . . . g.100030
TTTCTGGCCCCAAATGACTTGCAGACCAAACACCTGCAACTTAAGGAAGAATCTGTGAAG c.1200
F L A P N D L Q T K H L Q L K E E S V K p.400
. . . . . . g.100090
CTATTCCGAGGGGTGAAGAAGATGGGTGGGGAAGAATTTAGCCGGCGTTACCTGCAGCAG c.1260
L F R G V K K M G G E E F S R R Y L Q Q p.420
. . . . . . g.100150
TTGGAGAGTGAAATAGATGAACTTTACATCCAATATATCAAGCACAATGATAGCAAAAAT c.1320
L E S E I D E L Y I Q Y I K H N D S K N p.440
. . . . . . g.100210
ATCTTCCATGCAGCTCGTACCCCAGCCACACTGTTTGTAGTCATCTTTATCACATATGTG c.1380
I F H A A R T P A T L F V V I F I T Y V p.460
. . . . . . g.100270
ATTGCTGGTGTGACTGGATTCATTGGTTTGGACATCATAGCTAGCCTATGCAATATGATA c.1440
I A G V T G F I G L D I I A S L C N M I p.480
. . . . . . g.100330
ATGGGACTGACCCTTATCACCCTGTGCACTTGGGCATATATCCGGTACTCTGGAGAATAC c.1500
M G L T L I T L C T W A Y I R Y S G E Y p.500
. . . . . | 13 . g.101922
CGAGAGCTGGGAGCTGTAATAGACCAGGTGGCTGCAGCTCTGTGGGACCAG | GGAAGTACA c.1560
R E L G A V I D Q V A A A L W D Q | G S T p.520
| 14 . . . . . . g.104201
AATGAG | GCTTTGTACAAGCTTTACAGTGCAGCAGCAACCCACAGACATCTGTATCATCAA c.1620
N E | A L Y K L Y S A A A T H R H L Y H Q p.540
. . . . . g.104258
GCTTTCCCTACACCAAAGTCGGAATCTACTGAACAATCAGAAAAGAAAAAAATGTAA c.1677
A F P T P K S E S T E Q S E K K K M X p.558
. . . . . . g.104318
tgcaaattttaagaaatacaggtgcatgaccaattgtcaattaaatattcagttttatgt c.*60
. . . . . . g.104378
ctccatgcaaacattcaaagtgcttccatcagaacggagtaaaatactaaacacctctga c.*120
. . . . . . g.104438
agactgcaaactggattagttcttttacttcagtgtttaataagcagatgtatgtatgca c.*180
. . . . . . g.104498
tggttatactattttgttaacatgtacaatttcctgatttttcttcaaaaatgctgttat c.*240
. . . . . . g.104558
aaagtatttgtctatttatgataacagtacacgtgttctgcttgaatttactaaattcta c.*300
. . . . . . g.104618
ctactgggttataattaaatcatgtgatattccacgtttggatatgctcatttaatttct c.*360
. . . . . . g.104678
acagaaaaaattttaaattatttcacattagccatttgttaaaacacagcatcataactc c.*420
. . . . . . g.104738
agcaggctggatttaatctgtatcatcttatatatatcacaatcttatttttaagcacat c.*480
. . . . . . g.104798
tttagagttccttagttgctttatcaaaaaccagatattgcttttacatggtttaataga c.*540
. . . . . . g.104858
atataaacctcttgataaaaaatgcacaaaaaatcactttgtatatgtgagtttcactgc c.*600
. . . . . . g.104918
attgtatattttttcatttggtacacaaagaatgtattcttcataggtttattcttttaa c.*660
. . . . . . g.104978
tatgtgaactattattaaagtttactctggttcctaagattaaaaacaaatgcttactga c.*720
g.104987
atttgaaaa c.*729
(downstream sequence)
Legend:
Powered by LOVD v.2.0 Build 34
©2004-2012 Leiden University Medical Center