Results for the protein: P36956

Results for the Protein: P36956

166897633

6720

SREBF1

NCBI, UniProt

SRBP1_HUMAN RecName: Full=Sterol regulatory element-binding protein 1; Short=SREBP-1; AltName: Full=Class D basic helix-loop-helix protein 1; Short=bHLHd1; AltName: Full=Sterol regulatory element-binding transcription factor 1; Contains: RecName: Full=Processed sterol regulatory element-binding protein 1

			0 9 0 4 5

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Default View: HLH - cd00083 HLH - pfam00010 HLH - smart00353	Swiss-Prot Protein: P36956 Identical to: NP_004167 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
HLH	pfam00010	4.9e-18	324	374
HLH	smart00353	3.7e-16	329	379

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs35014224	Polymorphism	p.ALA1008PRO	N/A
dbSNP	rs35188700	Polymorphism	p.ALA309THR	N/A
dbSNP	rs7214136	Polymorphism	p.ARG610GLN	N/A
Swiss-Prot	VAR_038472	Polymorphism	p.ARG746HIS	N/A
Swiss-Prot	VAR_038468	Polymorphism	p.ASN306SER	N/A
Swiss-Prot	VAR_038473	Polymorphism	p.SER834LEU	N/A
Swiss-Prot	VAR_038474	Polymorphism	p.THR1000ALA	N/A
dbSNP	rs2229590	Polymorphism	p.VAL417MET	N/A
Swiss-Prot	VAR_038471	Polymorphism	p.VAL580MET	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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