Sequence information
Variant position: 405 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 686 The length of the canonical sequence.
Location on the sequence:
VTTYKAVIQYSCEETFYTMK
V NDGKYVCEADGFWTSSKGEK
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 VTTYKAVIQYSCEETFYTMKV NDGKYVCEADGFWTSSKGEK
Mouse VTTYKAVIQYSCEETFYTMS- SNGKYVCEADGFWTSSKGEK
Rat VTTYKAVIQYSCEETFYTMS- SNGKYVCEADGFWTSSKGEK
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
16 – 686
Mannan-binding lectin serine protease 2
Chain
16 – 444
Mannan-binding lectin serine protease 2 A chain
Domain
364 – 432
Sushi 2
Disulfide bond
366 – 412
Disulfide bond
396 – 430
Alternative sequence
186 – 686
Missing. In isoform 2.
Literature citations
A homozygous mutation in SLC1A4 in siblings with severe intellectual disability and microcephaly.
Srour M.; Hamdan F.F.; Gan-Or Z.; Labuda D.; Nassif C.; Oskoui M.; Gana-Weisz M.; Orr-Urtreger A.; Rouleau G.A.; Michaud J.L.;
Clin. Genet. 88:E1-E4(2015)
Cited for: VARIANTS MET-128 AND MET-405;
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.