Results for the protein: P10321

Results for the Protein: P10321

84028168

3107

HLA-C

NCBI, UniProt

1C07_HUMAN RecName: Full=HLA class I histocompatibility antigen, Cw-7 alpha chain; AltName: Full=MHC class I antigen Cw*7; Flags: Precursor

			0 65 0 33 32

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Default View: C1-set - pfam07654 IGc1 - smart00407 MHC_I_C - pfam06623	Swiss-Prot Protein: P10321 Identical to: NP_002108 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
IGc1	smart00407	6.3e-25	222	293
MHC_I_C	pfam06623	1.4e-07	337	365

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_050346	Polymorphism	p.ALA73GLU	N/A
dbSNP	rs1050438	Polymorphism	p.ALA43THR	N/A
Swiss-Prot	VAR_050348	Polymorphism	p.ALA97THR	N/A
Swiss-Prot	VAR_050350	Polymorphism	p.ALA182VAL	N/A
dbSNP	rs1131096	Polymorphism	p.ALA208VAL	N/A
Swiss-Prot	VAR_050353	Polymorphism	p.ALA330VAL	N/A
Swiss-Prot	VAR_016599	Polymorphism	p.ALA348VAL	N/A
dbSNP	rs2308538	Polymorphism	p.ARG36CYS	N/A
dbSNP	rs707911	Polymorphism	p.ARG48GLY	N/A
dbSNP	rs2308557	Polymorphism	p.ARG101ILE	N/A
dbSNP	rs1050343	Polymorphism	p.ARG217ILE	N/A
dbSNP	rs1050105	Polymorphism	p.ARG330LEU	N/A
dbSNP	rs1050371	Polymorphism	p.ARG153SER	N/A
dbSNP	rs1050428	Polymorphism	p.ARG59THR	N/A
Swiss-Prot	VAR_016592	Polymorphism	p.ASN104LYS	N/A
Swiss-Prot	VAR_061455	Polymorphism	p.CYS350SER	N/A
dbSNP	rs1050147	Polymorphism	p.GLN319PRO	N/A
dbSNP	rs2308584	Polymorphism	p.GLU162GLY	N/A
Swiss-Prot	VAR_016597	Polymorphism	p.GLU201LYS	N/A
Swiss-Prot	VAR_050345	Polymorphism	p.GLU43LYS	N/A
dbSNP	rs41559915	Polymorphism	p.GLU348VAL	N/A
dbSNP	rs2308575	Polymorphism	p.GLY138ARG	N/A
dbSNP	rs1050440	Polymorphism	p.GLY40SER	N/A
dbSNP	rs34592426	Polymorphism	p.ILE127VAL	N/A
Swiss-Prot	VAR_016596	Polymorphism	p.LEU180ASP	N/A
Swiss-Prot	VAR_059506	Polymorphism	p.LEU10ILE	N/A
dbSNP	rs146911342	Polymorphism	p.LEU327ILE	N/A
dbSNP	rs41543814	Polymorphism	p.LEU97ILE	N/A
Swiss-Prot	VAR_016593	Polymorphism	p.LEU119PHE	N/A
Swiss-Prot	VAR_016646	Polymorphism	p.LEU171TRP	N/A
dbSNP	rs1130838	Polymorphism	p.LEU363VAL	N/A
Swiss-Prot	VAR_016590	Polymorphism	p.LYS90ASN	N/A
dbSNP	rs1050328	Polymorphism	p.MET243LEU	N/A
Swiss-Prot	VAR_016598	Polymorphism	p.MET331LYS	N/A
Swiss-Prot	VAR_050354	Polymorphism	p.MET331VAL	N/A
dbSNP	rs2074493	Polymorphism	p.PRO25ALA	N/A
Swiss-Prot	VAR_061454	Polymorphism	p.PRO208ARG	N/A
dbSNP	rs1050437	Polymorphism	p.PRO45GLN	N/A
Swiss-Prot	VAR_061453	Polymorphism	p.PRO208HIS	N/A
dbSNP	rs41548123	Polymorphism	p.PRO7HIS	N/A
dbSNP	rs713032	Polymorphism	p.PRO140LEU	N/A
dbSNP	rs1050451	Polymorphism	p.PRO16LEU	N/A
dbSNP	rs41549413	Polymorphism	p.PRO20LEU	N/A
dbSNP	rs1131118	Polymorphism	p.PRO121SER	N/A
dbSNP	rs1050716	Polymorphism	p.SER218ALA	N/A
Swiss-Prot	VAR_061450	Polymorphism	p.SER48ALA	N/A
dbSNP	rs1050320	Polymorphism	p.SER248ARG	N/A
Swiss-Prot	VAR_016591	Polymorphism	p.SER101ASN	N/A
Swiss-Prot	VAR_059507	Polymorphism	p.SER123CYS	N/A
Swiss-Prot	VAR_059508	Polymorphism	p.SER123PHE	N/A
Swiss-Prot	VAR_016595	Polymorphism	p.SER140PHE	N/A
Swiss-Prot	VAR_061451	Polymorphism	p.SER48PRO	N/A
Swiss-Prot	VAR_061452	Polymorphism	p.SER48THR	N/A
Swiss-Prot	VAR_016594	Polymorphism	p.SER123TYR	N/A
Swiss-Prot	VAR_016600	Polymorphism	p.THR363ALA	N/A
Swiss-Prot	VAR_016647	Polymorphism	p.THR187LEU	N/A
dbSNP	rs1131115	Polymorphism	p.THR123MET	N/A
dbSNP	rs1071649	Polymorphism	p.THR119SER	N/A
dbSNP	rs1050445	Polymorphism	p.THR35SER	N/A
dbSNP	rs41556321	Polymorphism	p.TRP299ARG	N/A
dbSNP	rs2308618	Polymorphism	p.TRP252CYS	N/A
Swiss-Prot	VAR_050349	Polymorphism	p.TYR137HIS	N/A
Swiss-Prot	VAR_050352	Polymorphism	p.VAL328ILE	N/A
Swiss-Prot	VAR_050351	Polymorphism	p.VAL272MET	N/A
Swiss-Prot	VAR_050347	Polymorphism	p.VAL76MET	N/A

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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