Results for the protein: Q9UDY8

Results for the Protein: Q9UDY8

20455075

10892

MALT1

NCBI, UniProt

MALT1_HUMAN RecName: Full=Mucosa-associated lymphoid tissue lymphoma translocation protein 1; AltName: Full=MALT lymphoma-associated translocation; AltName: Full=Paracaspase

Known Diseases associated with this Protein:
IMMUNODEFICIENCY 12 (1 FAMILY)

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Tips:

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Default View: I-set - pfam07679 IG_like - smart00410 IG - smart00409 IGc2 - smart00408	Swiss-Prot Protein: Q9UDY8 Identical to: NP_006776 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
IG	smart00409	1.3e-05	133	209
IG_like	smart00410	1.3e-05	133	209
IGc2	smart00408	5.8e-06	140	197
I-set	pfam07679	0.00019	227	308
IG	smart00409	7.4e-07	233	309
IG_like	smart00410	7.4e-07	233	309

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs74847855	Polymorphism	p.ARG217GLY	N/A
Swiss-Prot	VAR_048620	Polymorphism	p.ILE641VAL	N/A
OMIM	604860.0001	Disease	p.SER89ILE	IMMUNODEFICIENCY 12 (1 family)

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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