Variant position: 1399 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1704 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 TPLIIKELSKVYEQRVPL---LA VDRLSLAVQKGECFGLLGFNG
Mouse TPLIINELSKVYDQRAPL---LA VDRISLAVQKGECFGLLG
Rat TPLIINELSKVYDQRAPL---LA VDRISLAVQKGECFGLLG
Slime mold DPIIMRDFFKLYKGKGKAKDNLA VYNTSLSIPKGQTFGLLG
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 – 1704 Phospholipid-transporting ATPase ABCA3
175 – 1704 150 Kda mature form
1381 – 1614 ABC transporter 2
210 – 1704 Missing. In isoform 2.
Respiratory failure in a term infant with cis and trans mutations in ABCA3.
Jackson T.; Wegner D.J.; White F.V.; Hamvas A.; Cole F.S.; Wambach J.A.;
J. Perinatol. 35:231-232(2015)
Cited for: VARIANTS SMDP3 CYS-280; MET-1399 AND 1589-GLN--ARG-1704 DEL;
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