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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P51648: Variant p.Ile45Phe

Aldehyde dehydrogenase family 3 member A2
Gene: ALDH3A2
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Variant information Variant position: help 45
Type of variant: help LP/P [Disclaimer]
Residue change: help From Isoleucine (I) to Phenylalanine (F) at position 45 (I45F, p.Ile45Phe).
Physico-chemical properties: help Change from medium size and hydrophobic (I) to large size and aromatic (F)
BLOSUM score: help 0
Variant description: help In SLS; severe loss of activity.


Sequence information Variant position: help 45
Protein sequence length: help 485
Location on the sequence: help QQLEALRRMVQEREKDILTA I AADLCKSEFNVYSQEVITVL
Residue conservation: help 
Human                         QQLEALRRMVQEREKDILTAIAADLCKSEFNVYSQEVITVL

Mouse                         QQLEALRRMVQEREKEILAAIAADLSKSELNAYSHEVITIL

Rat                           QQLEALRRMVQEREKDILAAIAADLSKSELNAYSHEVITIL
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 485 Aldehyde dehydrogenase family 3 member A2
Topological domain 1 – 463 Cytoplasmic
Helix 38 – 49



Literature citations
The molecular basis of Sjoegren-Larsson syndrome: mutation analysis of the fatty aldehyde dehydrogenase gene.
Rizzo W.B.; Carney G.; Lin Z.;
Am. J. Hum. Genet. 65:1547-1560(1999)
Cited for: VARIANTS SLS PHE-45; ASP-64; ARG-106; LEU-114; LEU-121; ARG-184; MET-184; ALA-185; CYS-228; TYR-237; ASN-245; ASN-266; ASN-279; SER-315; ILE-328; LEU-365; ARG-406; TYR-411; ASN-415; SER-419; HIS-423 AND GLU-447;
Disclaimer: Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.