Variant position: 173 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 230 The length of the canonical sequence.
Location on the sequence:
The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation: The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human PYSLLWNNCEHFVTYCRYGT PISPQSDKFCETVKIIIRDQR
Mouse PYSLLWNNCEHFVTYCRYGS RISPQAEKFYDTVKIIIRDQR
Rat PYSLLWNNCEHFVTYCRYGS PISPQAEKFHETVKILIRDQR
Bovine PYSLLWNNCEHFVTYCRYGT PISPQADKFCENVKIIIRDQR
Sequence annotation in neighborhood: The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:
Type: the type of sequence feature. Positions: endpoints of the sequence feature. Description: contains additional information about the feature.
Type Positions Description
1 – 230 Lecithin retinol acyltransferase
1 – 194 Cytoplasmic
50 – 177 LRAT
161 – 161 Acyl-thioester intermediate
161 – 161 C -> AS. Loss of activity.
168 – 168 C -> A. Loss of activity.
168 – 168 C -> S. Does not affect activity.
182 – 182 C -> A. Does not affect activity.
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;
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