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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O95237: Variant p.Pro173Leu

Lecithin retinol acyltransferase
Gene: LRAT
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Variant information Variant position: help 173
Type of variant: help LB/B
Residue change: help From Proline (P) to Leucine (L) at position 173 (P173L, p.Pro173Leu).
Physico-chemical properties: help Similar physico-chemical property. Both residues are medium size and hydrophobic.
BLOSUM score: help -3
Other resources: help


Sequence information Variant position: help 173
Protein sequence length: help 230
Location on the sequence: help PYSLLWNNCEHFVTYCRYGT P ISPQSDKFCETVKIIIRDQR
Residue conservation: help 
Human                         PYSLLWNNCEHFVTYCRYGTPISPQSDKFCETVKIIIRDQR

Mouse                         PYSLLWNNCEHFVTYCRYGSRISPQAEKFYDTVKIIIRDQR

Rat                           PYSLLWNNCEHFVTYCRYGSPISPQAEKFHETVKILIRDQR

Bovine                        PYSLLWNNCEHFVTYCRYGTPISPQADKFCENVKIIIRDQR
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 230 Lecithin retinol acyltransferase
Topological domain 1 – 194 Cytoplasmic
Domain 50 – 177 LRAT
Active site 161 – 161 Acyl-thioester intermediate
Mutagenesis 161 – 161 C -> AS. Loss of activity.
Mutagenesis 168 – 168 C -> A. Loss of activity.
Mutagenesis 168 – 168 C -> S. Does not affect activity.
Mutagenesis 182 – 182 C -> A. Does not affect activity.



Literature citations
Screening genes of the retinoid metabolism: novel LRAT mutation in Leber congenital amaurosis.
Senechal A.; Humbert G.; Surget M.O.; Bazalgette C.; Bazalgette C.; Arnaud B.; Arndt C.; Laurent E.; Brabet P.; Hamel C.P.;
Am. J. Ophthalmol. 142:702-704(2006)
Cited for: VARIANT LEU-173; INVOLVEMENT IN LCA14;
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.