(used for variant description)
(last modified September 23, 2024)
This file was created to facilitate the description of sequence variants on transcript NM_000341.3 in the SLC3A1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000002.11, covering SLC3A1 transcript NM_000341.3.
(upstream sequence)
. g.5018
aagaccaagcattcagca c.-61
. . . . . . g.5078
agccactcttccacctcccttactgcaggaaggcactccgaagacataagtcggtgagac c.-1
. . . . . . g.5138
ATGGCTGAAGATAAAAGCAAGAGAGACTCCATCGAGATGAGTATGAAGGGATGCCAGACA c.60
M A E D K S K R D S I E M S M K G C Q T p.20
. . . . . . g.5198
AACAACGGGTTTGTCCATAATGAAGACATTCTGGAGCAGACCCCGGATCCAGGAAGCTCA c.120
N N G F V H N E D I L E Q T P D P G S S p.40
. . . . . . g.5258
ACAGACAACCTGAAGCACAGCACCAGGGGCATCCTTGGCTCCCAGGAGCCCGACTTCAAG c.180
T D N L K H S T R G I L G S Q E P D F K p.60
. . . . . . g.5318
GGCGTCCAGCCCTATGCGGGGATGCCCAAGGAGGTGCTGTTCCAGTTCTCTGGCCAGGCC c.240
G V Q P Y A G M P K E V L F Q F S G Q A p.80
. . . . . . g.5378
CGCTACCGCATACCTCGGGAGATCCTCTTCTGGCTCACAGTGGCTTCTGTGCTGGTGCTC c.300
R Y R I P R E I L F W L T V A S V L V L p.100
. . . . . . g.5438
ATCGCGGCCACCATAGCCATCATTGCCCTCTCTCCAAAGTGCCTAGACTGGTGGCAGGAG c.360
I A A T I A I I A L S P K C L D W W Q E p.120
. . . . . . g.5498
GGGCCCATGTACCAGATCTACCCAAGGTCTTTCAAGGACAGTAACAAGGATGGGAACGGA c.420
G P M Y Q I Y P R S F K D S N K D G N G p.140
. | 02 . . . . . g.10308
GATCTGAAAG | GTATTCAAGATAAACTGGACTACATCACAGCTTTAAATATAAAAACTGTT c.480
D L K G | I Q D K L D Y I T A L N I K T V p.160
. . . . . . g.10368
TGGATTACTTCATTTTATAAATCGTCCCTTAAAGATTTCAGATATGGTGTTGAAGATTTC c.540
W I T S F Y K S S L K D F R Y G V E D F p.180
. . . . . . g.10428
CGGGAAGTTGATCCCATTTTTGGAACGATGGAAGATTTTGAGAATCTGGTTGCAGCCATA c.600
R E V D P I F G T M E D F E N L V A A I p.200
. | 03 . . . . . g.10979
CATGATAAAG | GTTTAAAATTAATCATCGATTTCATACCAAACCACACGAGTGATAAACAT c.660
H D K G | L K L I I D F I P N H T S D K H p.220
. . . . . . g.11039
ATTTGGTTTCAATTGAGTCGGACACGGACAGGAAAATATACTGATTATTATATCTGGCAT c.720
I W F Q L S R T R T G K Y T D Y Y I W H p.240
. . . . | 04 . . g.15589
GACTGTACCCATGAAAATGGCAAAACCATTCCACCCAACAACTGG | TTAAGTGTGTATGGA c.780
D C T H E N G K T I P P N N W | L S V Y G p.260
. . . . . . g.15649
AACTCCAGTTGGCACTTTGACGAAGTGCGAAACCAATGTTATTTTCATCAGTTTATGAAA c.840
N S S W H F D E V R N Q C Y F H Q F M K p.280
. . . . . | 05 . g.29522
GAGCAACCTGATTTAAATTTCCGCAATCCTGATGTTCAAGAAGAAATAAAA | GAAATTTTA c.900
E Q P D L N F R N P D V Q E E I K | E I L p.300
. . . . . . g.29582
CGGTTCTGGCTCACAAAGGGTGTTGATGGTTTTAGTTTGGATGCTGTTAAATTCCTCCTA c.960
R F W L T K G V D G F S L D A V K F L L p.320
. . . . . | 06 . g.30554
GAAGCAAAGCACCTGAGAGATGAGATCCAAGTAAATAAGACCCAAATCCCG | GACACGGTC c.1020
E A K H L R D E I Q V N K T Q I P | D T V p.340
. . . . . . g.30614
ACACAATACTCGGAGCTGTACCATGACTTCACCACCACGCAGGTGGGAATGCACGACATT c.1080
T Q Y S E L Y H D F T T T Q V G M H D I p.360
. . . . . | 07 . g.33689
GTCCGCAGCTTCCGGCAGACCATGGACCAATACAGCACGGAGCCCGGCAGATACAG | GTTC c.1140
V R S F R Q T M D Q Y S T E P G R Y R | F p.380
. . . . . . g.33749
ATGGGGACTGAAGCCTATGCAGAGAGTATTGACAGGACCGTGATGTACTATGGATTGCCA c.1200
M G T E A Y A E S I D R T V M Y Y G L P p.400
. . . . . . g.33809
TTTATCCAAGAAGCTGATTTTCCCTTCAACAATTACCTCAGCATGCTAGACACTGTTTCT c.1260
F I Q E A D F P F N N Y L S M L D T V S p.420
. . . . . . g.33869
GGGAACAGCGTGTATGAGGTTATCACATCCTGGATGGAAAACATGCCAGAAGGAAAATGG c.1320
G N S V Y E V I T S W M E N M P E G K W p.440
. | 08 . . . . . g.42176
CCTAACTGGATG | ATTGGTGGACCAGACAGTTCACGGCTGACTTCGCGTTTGGGGAATCAG c.1380
P N W M | I G G P D S S R L T S R L G N Q p.460
. . . . . . g.42236
TATGTCAACGTGATGAACATGCTTCTTTTCACACTCCCTGGAACTCCTATAACTTACTAT c.1440
Y V N V M N M L L F T L P G T P I T Y Y p.480
. . . . . . g.42296
GGAGAAGAAATTGGAATGGGAAATATTGTAGCCGCAAATCTCAATGAAAGCTATGATATT c.1500
G E E I G M G N I V A A N L N E S Y D I p.500
| 09 . . . . . . g.43437
| AATACCCTTCGCTCAAAGTCACCAATGCAGTGGGACAATAGTTCAAATGCTGGTTTTTCT c.1560
| N T L R S K S P M Q W D N S S N A G F S p.520
. . . . . | 10. g.49744
GAAGCTAGTAACACCTGGTTACCTACCAATTCAGATTACCACACTGTGAATGTTGAT | GTC c.1620
E A S N T W L P T N S D Y H T V N V D | V p.540
. . . . . . g.49804
CAAAAGACTCAGCCCAGATCGGCTTTGAAGTTATATCAAGATTTAAGTCTACTTCATGCC c.1680
Q K T Q P R S A L K L Y Q D L S L L H A p.560
. . . . . . g.49864
AATGAGCTACTCCTCAACAGGGGCTGGTTTTGCCATTTGAGGAATGACAGCCACTATGTT c.1740
N E L L L N R G W F C H L R N D S H Y V p.580
. . . . . . g.49924
GTGTACACAAGAGAGCTGGATGGCATCGACAGAATCTTTATCGTGGTTCTGAATTTTGGA c.1800
V Y T R E L D G I D R I F I V V L N F G p.600
. . . . . . g.49984
GAATCAACACTGTTAAATCTACATAATATGATTTCGGGCCTTCCCGCTAAAATGAGAATA c.1860
E S T L L N L H N M I S G L P A K M R I p.620
. . . . . . g.50044
AGGTTAAGTACCAATTCTGCCGACAAAGGCAGTAAAGTTGATACAAGTGGCATTTTTCTG c.1920
R L S T N S A D K G S K V D T S G I F L p.640
. . . . . . g.50104
GACAAGGGAGAGGGACTCATCTTTGAACACAACACGAAGAATCTCCTTCATCGCCAAACA c.1980
D K G E G L I F E H N T K N L L H R Q T p.660
. . . . . . g.50164
GCTTTCAGAGATAGATGCTTTGTTTCCAATCGAGCATGCTATTCCAGTGTACTGAACATA c.2040
A F R D R C F V S N R A C Y S S V L N I p.680
. g.50182
CTGTATACCTCGTGTTAG c.2058
L Y T S C X p.685
. . . . . . g.50242
gcacctttatgaagagatgaagacactggcatttcagtgggattgtaagcatttgtaata c.*60
. . . . . . g.50302
gcttcatgtacagcatgctgcttggtgaacaatcattaattcttcgatatttctgtagct c.*120
. . . . . . g.50362
tgaatgtaactgctttaagaaaggttctcaaatgttttgaaaaaaataaaatgtttaaaa c.*180
g.50367
gtaaa c.*185
(downstream sequence)
Legend:
Powered by LOVD v.3.0 Build 30b
©2004-2024 Leiden University Medical Center