Results for the protein: Q9UM44

Results for the Protein: Q9UM44

74762781

11148

HHLA2

NCBI, UniProt

HHLA2_HUMAN RecName: Full=HERV-H LTR-associating protein 2; AltName: Full=Human endogenous retrovirus-H long terminal repeat-associating protein 2; Flags: Precursor

			0 3 0 3 0

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Default View: V-set - pfam07686 C1-set - pfam07654 IG_like - smart00410 IGv - smart00406	Swiss-Prot Protein: Q9UM44 Identical to: NP_009003 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
C1-set	pfam07654	0.0001	144	222
IG_like	smart00410	0.00083	228	335
V-set	pfam07686	2.1e-16	230	334
IGv	smart00406	4.4e-05	238	319

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs3792332	Polymorphism	p.ASN344LYS	N/A
dbSNP	rs6779254	Polymorphism	p.ILE30THR	N/A
dbSNP	rs6779094	Polymorphism	p.SER364ARG	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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