Results for the protein: Q5K651

Results for the Protein: Q5K651

71153739

54809

SAMD9

NCBI, UniProt

SAMD9_HUMAN RecName: Full=Sterile alpha motif domain-containing protein 9; Short=SAM domain-containing protein 9

Known Diseases associated with this Protein:
TUMORAL CALCINOSIS, FAMILIAL, NORMOPHOSPHATEMIC
TUMORAL CALCINOSIS, NORMOPHOSPHATEMIC, FAMILIAL (NFTC)

2

6

1

6

1

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Default View: SAM - smart00454 SAM_2 - pfam07647 SAM_1 - pfam00536 - cd00166	Swiss-Prot Protein: Q5K651 Identical to: NP_001180236, NP_060124 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
SAM_1	pfam00536	2e-05	12	75
SAM_2	pfam07647	0.00017	11	75
SAM	smart00454	1.4e-06	11	77

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs117649834	Polymorphism	p.ALA454THR	N/A
dbSNP	rs10239435	Polymorphism	p.ASN449SER	N/A
dbSNP	rs6969691	Polymorphism	p.ILE143THR	N/A
Swiss-Prot	VAR_031529	Disease	p.LYS1495GLU	Tumoral calcinosis, normophosphatemic, familial (NFTC)
dbSNP	rs79303965	Polymorphism	p.LYS894GLU	N/A
dbSNP	rs78564070	Polymorphism	p.THR479MET	N/A
dbSNP	rs10279499	Polymorphism	p.VAL549LEU	N/A
OMIM	610456.0001	Disease	p.LYS1495GLU	TUMORAL CALCINOSIS, FAMILIAL, NORMOPHOSPHATEMIC

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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