mitochondrial ribosomal protein L3 [Source:HGNC Symbol;Acc:10379]
3
131181056
131221827
-1
q22.1
131181056
131221813
MRPL3
MRPL3-001
HGNC Symbol
HGNC transcript name
10
35.94
protein_coding
protein_coding
ensembl_hava
ensembl_hava
KNOWN
KNOWN
11222
10379
MRPL3
NM_007208
27517
MSeqDR Master Exome Data Set M1: 144 entries from same gene
No.
Chr
Position
Reference
Variant
EnsemblTranscriptID
EnsemblGeneID
Gene_Start
Gene_End
EnsemblProteinID
Gene
strand
Uniprot
cChange
pChange
Nature
dbSNP
Freq
EVS
phastCons
SIFT
Polyphen
HGMD
type
samples
1
3
131181144
T
G
ENST00000264995
ENSG00000114686
131181056
131221827
ENSP00000264995
MRPL3
-1
RM03_HUMAN
-
-
3'_UTR
NA
-
-
-
-
-
-
hom
1
2
3
131181144
T
G
ENST00000264995
ENSG00000114686
131181056
131221827
ENSP00000264995
MRPL3
-1
RM03_HUMAN
-
-
3'_UTR
NA
-
-
-
-
-
-
het
2
3
3
131181428
A
G
ENST00000264995
ENSG00000114686
131181056
131221827
ENSP00000264995
MRPL3
-1
RM03_HUMAN
-
-
3'_UTR
NA
-
-
-
-
-
-
het
9
4
3
131181428
A
G
ENST00000425847
ENSG00000114686
131181056
131221827
ENSP00000398536
MRPL3
-1
-
-
-
3'_UTR
NA
-
-
-
-
-
-
het
9
5
3
131181428
A
G
ENST00000510043
ENSG00000114686
131181056
131221827
-
MRPL3
-1
-
c.610T>C
p.Y204H
non-syn
NA
-
-
-
-
-
-
het
9
6
3
131181428
A
G
ENST00000511168
ENSG00000114686
131181056
131221827
ENSP00000424107
MRPL3
-1
-
-
-
3'_UTR
NA
-
-
-
-
-
-
het
9
7
3
131181481
G
A
ENST00000264995
ENSG00000114686
131181056
131221827
ENSP00000264995
MRPL3
-1
RM03_HUMAN
-
-
3'_UTR
rs143594337
0.0042
-
-
-
-
-
het
1
8
3
131181481
G
A
ENST00000425847
ENSG00000114686
131181056
131221827
ENSP00000398536
MRPL3
-1
-
-
-
3'_UTR
rs143594337
0.0042
-
-
-
-
-
het
1
9
3
131181481
G
A
ENST00000510043
ENSG00000114686
131181056
131221827
-
MRPL3
-1
-
c.557C>T
p.P186L
non-syn
rs143594337
0.0042
-
-
-
-
-
het
1
10
3
131181481
G
A
ENST00000511168
ENSG00000114686
131181056
131221827
ENSP00000424107
MRPL3
-1
-
-
-
3'_UTR
rs143594337
0.0042
-
-
-
-
-
het
1
11
3
131181490
G
A
ENST00000264995
ENSG00000114686
131181056
131221827
ENSP00000264995
MRPL3
-1
RM03_HUMAN
-
-
3'_UTR
NA
-
-
-
-
-
-
het
1
12
3
131181490
G
A
ENST00000425847
ENSG00000114686
131181056
131221827
ENSP00000398536
MRPL3
-1
-
-
-
3'_UTR
NA
-
-
-
-
-
-
het
1
13
3
131181490
G
A
ENST00000510043
ENSG00000114686
131181056
131221827
-
MRPL3
-1
-
c.548C>T
p.S183L
non-syn
NA
-
-
-
-
-
-
het
1
14
3
131181490
G
A
ENST00000511168
ENSG00000114686
131181056
131221827
ENSP00000424107
MRPL3
-1
-
-
-
3'_UTR
NA
-
-
-
-
-
-
het
1
15
3
131181581
T
C
ENST00000264995
ENSG00000114686
131181056
131221827
ENSP00000264995
MRPL3
-1
RM03_HUMAN
c.1033A>G
p.I345V
non-syn
rs143176048
-
C=3/T=8597;C=1/T=4405;C=4/T=13002
-
TOLERATED
B
-
het
2
16
3
131181581
T
C
ENST00000425847
ENSG00000114686
131181056
131221827
ENSP00000398536
MRPL3
-1
-
c.1114A>G
p.I372V
non-syn
rs143176048
-
C=3/T=8597;C=1/T=4405;C=4/T=13002
-
TOLERATED
B
-
het
2
17
3
131181581
T
C
ENST00000510043
ENSG00000114686
131181056
131221827
-
MRPL3
-1
-
c.457A>G
p.I153V
non-syn
rs143176048
-
C=3/T=8597;C=1/T=4405;C=4/T=13002
-
TOLERATED
B
-
het
2
18
3
131181581
T
C
ENST00000511168
ENSG00000114686
131181056
131221827
ENSP00000424107
MRPL3
-1
-
c.1076A>G
p.Y359C
non-syn
rs143176048
-
C=3/T=8597;C=1/T=4405;C=4/T=13002
-
TOLERATED
B
-
het
2
19
3
131181584
A
T
ENST00000264995
ENSG00000114686
131181056
131221827
ENSP00000264995
MRPL3
-1
RM03_HUMAN
c.1030T>A
p.S344T
non-syn
NA
-
-
lod=27:321
TOLERATED
D
-
het
1
20
3
131181584
A
T
ENST00000425847
ENSG00000114686
131181056
131221827
ENSP00000398536
MRPL3
-1
-
c.1111T>A
p.S371T
non-syn
NA
-
-
lod=27:321
TOLERATED
D
-
het
1
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