Sequence information
Variant position: 290 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:
SFTYTALTIARAVVQEKERR
L KEYMRMMGLSSWLHWSAWFL
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 SFTYTALTIARAVVQEKERRL KEYMRMMGLSSWLHWSAWFL
Mouse SFTYTSLTIIRAVVQEKEKKL KEYMRMMGLNSWLHWSAWFL
Rat SFTYTSLTIIRAVVQEKEKKL KEYMRMMGLSSWLHWSAWFL
Slime mold AIFVGLFTTITNMVMEKESKI LEAMKIMGLHS--------L
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
Chain
1 – 1704
Phospholipid-transporting ATPase ABCA3
Chain
175 – 1704
150 Kda mature form
Alternative sequence
210 – 1704
Missing. In isoform 2.
Literature citations
The consensus coding sequences of human breast and colorectal cancers.
Sjoeblom T.; Jones S.; Wood L.D.; Parsons D.W.; Lin J.; Barber T.D.; Mandelker D.; Leary R.J.; Ptak J.; Silliman N.; Szabo S.; Buckhaults P.; Farrell C.; Meeh P.; Markowitz S.D.; Willis J.; Dawson D.; Willson J.K.V.; Gazdar A.F.; Hartigan J.; Wu L.; Liu C.; Parmigiani G.; Park B.H.; Bachman K.E.; Papadopoulos N.; Vogelstein B.; Kinzler K.W.; Velculescu V.E.;
Science 314:268-274(2006)
Cited for: VARIANTS [LARGE SCALE ANALYSIS] MET-290; ASP-801 AND GLN-1069;
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.