Variant position: 377 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:
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 PMPACSIVDCGPPDDLPSGR VEYITGPGVTTYKAVIQYSCE
Mouse PMPECSIIDCGPPDDLPNGH VDYITGPEVTTYKAVIQYSCE
Rat PIPECSIIDCGPPDDLPNGH VDYITGPEVTTYKAVIQYSCE
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
16 – 686 Mannan-binding lectin serine protease 2
16 – 444 Mannan-binding lectin serine protease 2 A chain
364 – 432 Sushi 2
366 – 412
186 – 686 Missing. In isoform 2.
375 – 382
The human gene for mannan-binding lectin-associated serine protease-2 (MASP-2), the effector component of the lectin route of complement activation, is part of a tightly linked gene cluster on chromosome 1p36.2-3.
Stover C.; Endo Y.; Takahashi M.; Lynch N.; Constantinescu C.; Vorup-Jensen T.; Thiel S.; Friedl H.; Hankeln T.; Hall R.; Gregory S.; Fujita T.; Schwaeble W.;
Genes Immun. 2:119-127(2001)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 149-284 AND 364-686; VARIANT ALA-377;
Deficiency of mannan-binding lectin associated serine protease-2 due to missense polymorphisms.
Thiel S.; Steffensen R.; Christensen I.J.; Ip W.K.; Lau Y.L.; Reason I.J.; Eiberg H.; Gadjeva M.; Ruseva M.; Jensenius J.C.;
Genes Immun. 8:154-163(2007)
Cited for: VARIANTS MASPD GLY-120; LEU-126 AND HIS-ASN-HIS-156 INS; VARIANTS GLN-99; CYS-118 AND ALA-377; CHARACTERIZATION OF VARIANT ALA-377;
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.