(used for variant description)
(last modified January 9, 2019)
This file was created to facilitate the description of sequence variants on transcript NM_021734.4 in the SLC25A19 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_008274.1, covering SLC25A19 transcript NM_021734.4.
(upstream sequence)
. . g.5028
agtttcgtccgagctcagtagagttttg c.-181
. . . . . . g.5088
ctgttaagactgcgcgaggagctagagagagcggagagcgctgagccgggccgcacccgc c.-121
. | 02. . . . . g.6040
cgagccgt | gaaaaaagtacatctcctggaagggatgctttttagctgagctctggtggat c.-61
. . . | 03 . . . g.7685
gagaggagctagccttgaaaaa | cttgatactgatggacattgtgtgggccagaggcaggg c.-1
. . . . . . g.7745
ATGGTTGGCTATGACCCCAAACCAGATGGCAGGAATAACACCAAGTTCCAGGTGGCAGTG c.60
M V G Y D P K P D G R N N T K F Q V A V p.20
. . . . . . g.7805
GCTGGGTCTGTGTCTGGACTTGTTACTCGGGCGCTGATCAGTCCCTTCGACGTCATCAAG c.120
A G S V S G L V T R A L I S P F D V I K p.40
. | 04 . . . . . g.8038
ATCCGTTTCCAG | CTTCAGCATGAGCGCCTGTCTCGCAGTGACCCCAGCGCAAAGTACCAT c.180
I R F Q | L Q H E R L S R S D P S A K Y H p.60
. . . . . . g.8098
GGCATCCTCCAGGCCTCTAGGCAGATTCTGCAGGAGGAGGGTCCGACAGCTTTCTGGAAA c.240
G I L Q A S R Q I L Q E E G P T A F W K p.80
. . . . | 05 . g.10868
GGACACGTCCCAGCTCAGATTCTCTCCATAGGCTATGGAGCTGTCCAA | TTCTTGTCATTT c.300
G H V P A Q I L S I G Y G A V Q | F L S F p.100
. . . . . . g.10928
GAAATGCTGACGGAGCTGGTCCACAGAGGCAGCGTGTATGACGCCCGGGAATTCTCAGTG c.360
E M L T E L V H R G S V Y D A R E F S V p.120
. . . . . . g.10988
CACTTTGTATGTGGTGGCCTGGCTGCCTGTATGGCCACCCTCACTGTGCACCCCGTGGAT c.420
H F V C G G L A A C M A T L T V H P V D p.140
. . . | 06 . . g.16135
GTTCTGCGCACCCGCTTTGCAGCTCAGGGTGAGCCCAAG | GTCTATAATACGCTGCGCCAC c.480
V L R T R F A A Q G E P K | V Y N T L R H p.160
. . . . . . g.16195
GCCGTGGGGACCATGTATAGGAGCGAAGGCCCCCAGGTTTTCTACAAAGGCTTGGCTCCC c.540
A V G T M Y R S E G P Q V F Y K G L A P p.180
. . . . . . g.16255
ACCTTGATCGCCATCTTCCCCTACGCCGGGCTGCAGTTCTCTTGCTACAGCTCCTTGAAG c.600
T L I A I F P Y A G L Q F S C Y S S L K p.200
. . . . | 07 . . g.16983
CACCTGTACAAGTGGGCCATACCAGCCGAAGGAAAGAAAAATG | AGAACCTCCAAAACCTG c.660
H L Y K W A I P A E G K K N E | N L Q N L p.220
. . . . . . g.17043
CTTTGTGGCAGTGGAGCTGGTGTCATCAGCAAGACCCTGACATATCCGCTGGACCTCTTC c.720
L C G S G A G V I S K T L T Y P L D L F p.240
. . . . . | 08 . g.20816
AAGAAGCGGCTACAGGTTGGAGGGTTTGAGCATGCCAGAGCTGCCTTTGGCCAG | GTACGG c.780
K K R L Q V G G F E H A R A A F G Q | V R p.260
. . . . . . g.20876
AGATACAAGGGCCTCATGGACTGTGCCAAGCAGGTGCTGCAAAAGGAAGGCGCCCTGGGC c.840
R Y K G L M D C A K Q V L Q K E G A L G p.280
. . . . . . g.20936
TTCTTCAAGGGCCTGTCCCCCAGCTTGCTGAAGGCTGCCCTCTCCACAGGCTTCATGTTC c.900
F F K G L S P S L L K A A L S T G F M F p.300
. . . . . . g.20996
TTCTCGTATGAATTCTTCTGTAATGTCTTCCACTGCATGAACAGGACAGCCAGCCAGCGC c.960
F S Y E F F C N V F H C M N R T A S Q R p.320
g.20999
TGA c.963
X p.320
. . . . . . g.21059
gtgcaggaaggaccccaggtcttccctggaggcagcctcctgaaggaaggaagattcagt c.*60
. . . . . . g.21119
ctccactgagaggtgccgtctggcccttccctgcaggccagctgccccaagcggggtagc c.*120
. . . . . . g.21179
agccttgaacccacccagctgggacaccaccagaaggtccagggctctccccatgagaga c.*180
. . . . . . g.21239
atcagagggaatgcaggacgtggtctatggtgagccaacgacacagtgagaaggagcagg c.*240
. . . . . . g.21299
aagttgctgtttctcctctgaccagcccacactccaaaggaaacagacgccatcctacac c.*300
. . . . . . g.21359
ctatcagccctgcctgccaggagaacagaacacactcctggtctggatggggctgctgct c.*360
. . . . . . g.21419
tgagtgcagagggctgcggtaggccctttgcaggagtcaggtccctacacttggcctgtt c.*420
. . . . . g.21470
tttccaacctatttaatagacattaaagctaaacacacattccttatctta c.*471
(downstream sequence)
Legend:
Powered by LOVD v.3.0 Build 21
©2004-2019 Leiden University Medical Center