Classification
Category 1
CMH MAF
2 /
6955 samples
(0.0288%)
2 het.,
0 hom.
(100%)
2 /
13910 total alleles
(0.0144%)
Genes
gene: TPM3
synonym(s): CFTD, hscp30, NEM1, OK%2FSW-cl.5, TM-5, TM3, TM30, TM30nm, TM5, TPMsk3, TRK, TPM3, ENSG00000143549
NM_001043351.1
[CDS]
hgvs_c: NM_001043351.1:c.391C>T
reference AA: R
variant AA: C
reference codon: Cgt
variant codon: Tgt
cDNA pos: 521
CDS pos: 391
translation impact: non_synonymous
protein sequence:
NP_001036816.1
AA pos: 131
hgvs_p: NP_001036816.1:p.Arg131Cys
blosum: -3
SIFT: deleterious (0.02)
PolyPhen2: possibly_damaging (0.794)
NM_001043352.1
[CDS]
hgvs_c: NM_001043352.1:c.391C>T
reference AA: R
variant AA: C
reference codon: Cgt
variant codon: Tgt
cDNA pos: 521
CDS pos: 391
translation impact: non_synonymous
protein sequence:
NP_001036817.1
AA pos: 131
hgvs_p: NP_001036817.1:p.Arg131Cys
blosum: -3
SIFT: deleterious (0.02)
PolyPhen2: benign (0.025)
NM_001043353.1
[CDS]
hgvs_c: NM_001043353.1:c.391C>T
reference AA: R
variant AA: C
reference codon: Cgt
variant codon: Tgt
cDNA pos: 521
CDS pos: 391
translation impact: non_synonymous
protein sequence:
NP_001036818.1
AA pos: 131
hgvs_p: NP_001036818.1:p.Arg131Cys
blosum: -3
SIFT: deleterious (0.02)
PolyPhen2: probably_damaging (0.993)
NM_001278188.1
[CDS]
hgvs_c: NM_001278188.1:c.193C>T
reference AA: R
variant AA: C
reference codon: Cgt
variant codon: Tgt
cDNA pos: 387
CDS pos: 193
translation impact: non_synonymous
protein sequence:
NP_001265117.1
AA pos: 65
hgvs_p: NP_001265117.1:p.Arg65Cys
blosum: -3
NM_001278189.1
[CDS]
hgvs_c: NM_001278189.1:c.391C>T
reference AA: R
variant AA: C
reference codon: Cgt
variant codon: Tgt
cDNA pos: 521
CDS pos: 391
translation impact: non_synonymous
protein sequence:
NP_001265118.1
AA pos: 131
hgvs_p: NP_001265118.1:p.Arg131Cys
blosum: -3
SIFT: deleterious (0.02)
PolyPhen2: benign (0.042)
NM_001278190.1
[CDS]
hgvs_c: NM_001278190.1:c.391C>T
reference AA: R
variant AA: C
reference codon: Cgt
variant codon: Tgt
cDNA pos: 521
CDS pos: 391
translation impact: non_synonymous
protein sequence:
NP_001265119.1
AA pos: 131
hgvs_p: NP_001265119.1:p.Arg131Cys
blosum: -3
SIFT: deleterious (0.02)
PolyPhen2: benign (0.007)
NM_001278191.1
[CDS]
hgvs_c: NM_001278191.1:c.121C>T
reference AA: R
variant AA: C
reference codon: Cgt
variant codon: Tgt
cDNA pos: 367
CDS pos: 121
translation impact: non_synonymous
protein sequence:
NP_001265120.1
AA pos: 41
hgvs_p: NP_001265120.1:p.Arg41Cys
blosum: -3
SIFT: deleterious (0.04)
PolyPhen2: probably_damaging (1.0)
NM_152263.3
[CDS]
Reportable
hgvs_c: NM_152263.3:c.502C>T
reference AA: R
variant AA: C
reference codon: Cgt
variant codon: Tgt
cDNA pos: 619
CDS pos: 502
translation impact: non_synonymous
protein sequence:
NP_689476.2
AA pos: 168
hgvs_p: NP_689476.2:p.Arg168Cys
blosum: -3
SIFT: deleterious (0.01)
PolyPhen2: probably_damaging (0.984)
NM_153649.3
[CDS]
hgvs_c: NM_153649.3:c.391C>T
reference AA: R
variant AA: C
reference codon: Cgt
variant codon: Tgt
cDNA pos: 521
CDS pos: 391
translation impact: non_synonymous
protein sequence:
NP_705935.1
AA pos: 131
hgvs_p: NP_705935.1:p.Arg131Cys
blosum: -3
SIFT: deleterious (0.02)
PolyPhen2: benign (0.03)
NR_103461.1
[exon]
hgvs_c: NR_103461.1:n.521C>T
cDNA pos: 521
dbSNP
rs121964854
ClinVar
12454
clinvar_significance = Pathogenic
clinvar_disease = Congenital myopathy with fiber type disproportion
clinvar_disease = Nemaline myopathy 1
clinvar_disease = Cap myopathy 1
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