Results for the protein: Q96EM0

Results for the Protein: Q96EM0

296452868

112849

L3HYPDH

NCBI, UniProt

T3HPD_HUMAN RecName: Full=Trans-L-3-hydroxyproline dehydratase; AltName: Full=Trans-3-hydroxy-l-proline dehydratase

			0 8 0 4 4

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Default View: COG3938 - COG3938 Pro_racemase - pfam05544	Swiss-Prot Protein: Q96EM0 Identical to: NP_653182 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
Pro_racemase	pfam05544	1.7e-192	22	352

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs1046701	Polymorphism	p.ALA315VAL	N/A
dbSNP	rs8660	Polymorphism	p.ILE341VAL	N/A
dbSNP	rs34741399	Polymorphism	p.LEU120ARG	N/A
dbSNP	rs17096291	Polymorphism	p.VAL42ALA	N/A
Swiss-Prot	VAR_032541	Polymorphism	p.ALA315VAL	N/A
Swiss-Prot	VAR_032542	Polymorphism	p.ILE341VAL	N/A
Swiss-Prot	VAR_062192	Polymorphism	p.PRO125SER	N/A
Swiss-Prot	VAR_032540	Polymorphism	p.VAL42ALA	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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