Variant position: 120 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 APGKDTFYSLGSSLDITFRS DYSNEKPFTGFEAFYAAEDID
Mouse APGNDTFYSLGPSLKVTFHS DYSNEKPFTGFEAFYAAEDVD
Rat APGNDTFYSLGPSLKVTFHS DYSNEKPFTGFEAFYAAEDVD
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
16 – 137 CUB 1
120 – 120 Calcium 1
122 – 122 Calcium 1; via carbonyl oxygen
123 – 123 Calcium 1
138 – 138 Calcium 2
139 – 139 Calcium 2; via carbonyl oxygen
121 – 121 Y -> A. Strongly decreases affinity for MBL2, but not for FCN2.
124 – 124 E -> A. Decreases affinity for MBL2. Slight decrease in affinity for FCN2.
The X-ray structure of human mannan-binding lectin-associated protein 19 (MAp19) and its interaction site with mannan-binding lectin and L-ficolin.
Gregory L.A.; Thielens N.M.; Matsushita M.; Sorensen R.; Arlaud G.J.; Fontecilla-Camps J.-C.; Gaboriaud C.;
J. Biol. Chem. 279:29391-29397(2004)
Cited for: X-RAY CRYSTALLOGRAPHY (2.5 ANGSTROMS) OF 16-181 (ISOFORM 2); CHARACTERIZATION OF VARIANT GLY-120; CALCIUM-BINDING SITES; DIMERIZATION; MUTAGENESIS OF TYR-74; TYR-121 AND GLU-124; INTERACTION WITH MBL2 AND FCN2; DISULFIDE BONDS;
Inherited deficiency of mannan-binding lectin-associated serine protease 2.
Stengaard-Pedersen K.; Thiel S.; Gadjeva M.; Moller-Kristensen M.; Sorensen R.; Jensen L.T.; Sjoeholm A.G.; Fugger L.; Jensenius J.C.;
N. Engl. J. Med. 349:554-560(2003)
Cited for: VARIANT MASPD GLY-120; CHARACTERIZATION OF VARIANT MASPD GLY-120;
Novel MASP2 variants detected among North African and Sub-Saharan individuals.
Lozano F.; Suarez B.; Munoz A.; Jensenius J.C.; Mensa J.; Vives J.; Horcajada J.P.;
Tissue Antigens 66:131-135(2005)
Cited for: VARIANTS GLN-99; CYS-118; GLY-120 AND LEU-126;
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.