Results for the protein: Q8TCS8

Results for the Protein: Q8TCS8

115502437

87178

PNPT1

NCBI, UniProt

PNPT1_HUMAN RecName: Full=Polyribonucleotide nucleotidyltransferase 1, mitochondrial; AltName: Full=3'-5' RNA exonuclease OLD35; AltName: Full=PNPase old-35; AltName: Full=Polynucleotide phosphorylase 1; Short=PNPase 1; AltName: Full=Polynucleotide phosphorylase-like protein; Flags: Precursor

Known Diseases associated with this Protein:
  COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13
  COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13 (COXPD13)
  DEAFNESS, AUTOSOMAL RECESSIVE 70
  DEAFNESS, AUTOSOMAL RECESSIVE, 70 (DFNB70)

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Tips:

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Default View: Pnp - COG1185 RNase_PH - pfam01138 RNase_PH_C - pfam03725 PNPase - pfam03726 Rph - COG0689 KH - smart00322 PNPase_KH - cd02393 KH_1 - pfam00013 KH-I - cd00105 S1 - smart00316 S1_RPS1_repeat_hs4 - cd05692 S1_PNPase - cd04472	Swiss-Prot Protein: Q8TCS8 Identical to: NP_149100 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
Rph	COG0689	6.7e-07	350	594
PNPase_KH	cd02393	0.00012	605	665
KH-I	cd00105	1.5e-07	607	665
S1_PNPase	cd04472	0.00014	679	749
S1_RPS1_repeat_hs4	cd05692	0.00056	679	750
RNase_PH	pfam01138	3.5e-41	52	183
RNase_PH_C	pfam03725	5.4e-15	186	251
PNPase	pfam03726	4.4e-06	282	363
RNase_PH	pfam01138	7e-30	366	501
RNase_PH_C	pfam03725	0.0005	504	581
KH_1	pfam00013	1.3e-08	607	664
KH	smart00322	3.3e-08	604	669
S1	smart00316	0.00012	677	750

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs7594497	Polymorphism	p.ASN590ASP	N/A
Swiss-Prot	VAR_069248	Disease	p.GLN387ARG	Combined oxidative phosphorylation deficiency 13 (COXPD13)
Swiss-Prot	VAR_050610	Polymorphism	p.GLU230GLN	N/A
Swiss-Prot	VAR_069249	Disease	p.GLU475GLY	Deafness, autosomal recessive, 70 (DFNB70)
dbSNP	rs782572	Polymorphism	p.ILE121VAL	N/A
OMIM	610316.0001	Disease	p.GLN387ARG	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13
OMIM	610316.0002	Disease	p.GLU475GLY	DEAFNESS, AUTOSOMAL RECESSIVE 70

Please Cite: Peterson, T.A., Adadey, A., Santana-Cruz ,I., Sun, Y., Winder A, Kann, M.G., (2010) DMDM: Domain Mapping of Disease Mutations. Bioinformatics 26 (19), 2458-2459.

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