Results for the protein: Q5SYB0

Results for the Protein: Q5SYB0

74754275

22844

FRMPD1

NCBI, UniProt

FRPD1_HUMAN RecName: Full=FERM and PDZ domain-containing protein 1; AltName: Full=FERM domain-containing protein 2

			0 10 0 7 3

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Default View: PDZ - smart00228 PDZ_signaling - cd00992 PDZ - pfam00595 PDZ - cd00136 B41 - smart00295 FERM_M - pfam00373	Swiss-Prot Protein: Q5SYB0 Identical to: NP_055722 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
PDZ	cd00136	3.9e-06	67	132
PDZ	pfam00595	5.6e-08	57	132
FERM_M	pfam00373	4e-30	274	401
PDZ	smart00228	7.5e-12	54	135
B41	smart00295	3e-29	178	401

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs2296556	Polymorphism	p.ALA44THR	N/A
dbSNP	rs1359590	Polymorphism	p.ALA225VAL	N/A
dbSNP	rs73447213	Polymorphism	p.ALA961VAL	N/A
Swiss-Prot	VAR_035445	Polymorphism	p.GLY572ASP	N/A
Swiss-Prot	VAR_035311	Polymorphism	p.GLY1092GLU	N/A
dbSNP	rs62640016	Polymorphism	p.PRO1178LEU	N/A
dbSNP	rs7031966	Polymorphism	p.THR50ASN	N/A
dbSNP	rs3747539	Polymorphism	p.THR6PRO	N/A
Swiss-Prot	VAR_035310	Polymorphism	p.TYR846ASP	N/A
dbSNP	rs57942614	Polymorphism	p.VAL1217ILE	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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