Results for the protein: Q7Z5P4

Results for the Protein: Q7Z5P4

74750138

345275

HSD17B13

NCBI, UniProt

DHB13_HUMAN RecName: Full=17-beta-hydroxysteroid dehydrogenase 13; Short=17-beta-HSD 13; AltName: Full=Short-chain dehydrogenase/reductase 9; Flags: Precursor

			0 4 0 4 0

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Default View: DltE - COG0300 COG4221 - COG4221 FabG - COG1028 DltE - COG3967 adh_short - pfam00106 KR - pfam08659	Swiss-Prot Protein: Q7Z5P4 Identical to: NP_835236 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
FabG	COG1028	1.4e-40	32	264
COG4221	COG4221	4.6e-14	31	256
DltE	COG3967	2.1e-08	33	282
adh_short	pfam00106	4e-25	37	204
KR	pfam08659	0.00025	39	203

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs114287473	Polymorphism	p.ALA279VAL	N/A
dbSNP	rs76926692	Polymorphism	p.PRO260GLN	N/A
dbSNP	rs62305723	Polymorphism	p.PRO260SER	N/A
dbSNP	rs111403391	Polymorphism	p.THR239ILE	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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