Variant position: 94 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 288 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 NEYQFSVDQLMELAGLSCAT AIAKAYPP--TSMSRSPPTVLVI
Mouse NEYQFSVDQLMELAGLSCAT AIAKAYPP--TSMSKSPPTVL
Rat NEYQFSVDQLMELAGLSCAT AIAKAYPP--TSMSKSPPTVL
Pig NEYQFSVDQLMELAGLSCAT AIAKVYPP--TSLSRSPPTVL
Bovine NEYQFSVDQLMELAGLSCAT AIAKAYPP--TSLSRSPPTVL
Xenopus tropicalis NEYRFSVDQLMELAGLSCAV AITKAYPV--SSFTSNLPTVL
Zebrafish SDFSFSVDQLMELAGLSCAT AVAKGYPV--TSLLKSPARVL
Caenorhabditis elegans TKYGFKVEQLMELAGLAAAQ AIAAHYPK---------SNVA
Drosophila NDYKFSVDQLMELAGLSCAH AVAKCFPA------EKHPRIL
Slime mold KKYAFSTDSLMELAGLSCAS VIQHVYPT-------ISKKVL
Baker's yeast PQIGFTLQQLMELAGFSVAQ AVCRQFPLRGKTETEKGKHVF
Fission yeast SAGAFSIDQLMELAGLSVSQ AVYREYPP------SQYSQVL
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
48 – 288 NAD(P)H-hydrate epimerase
65 – 275 YjeF N-terminal
1 – 103 Missing. In isoform 2.
Homozygous mutation in the APOA1BP is associated with a lethal infantile leukoencephalopathy.
Spiegel R.; Shaag A.; Shalev S.; Elpeleg O.;
Cited for: VARIANT PEBEL1 ASP-94;
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