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UniProtKB/Swiss-Prot Q9NPF0: Variant p.Ser142Gly

CD320 antigen
Gene: CD320
Variant information

Variant position:  142
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  LB/B
The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance

Residue change:  From Serine (S) to Glycine (G) at position 142 (S142G, p.Ser142Gly).
Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.

Physico-chemical properties:  Change from small size and polar (S) to glycine (G)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  0
The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page



Sequence information

Variant position:  142
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  282
The length of the canonical sequence.

Location on the sequence:   KKLRNCSRLACLAGELRCTL  S DDCIPLTWRCDGHPDCPDSS
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                         KKLRNCSRLACLAGELRCTLSDDCIPLTWRCDGHPDCPDSS

Mouse                         KNL-NCSRPPCQESELHCILDDVCIPHTWRCDGHPDCLDSS

Rat                           KNL-NCSRSPCQEGELRCILDDVCIPHTWRCDGHPDCPDSS

Bovine                        KNLLNCGPQSCPEGELCCPLDGVCIPSTWLCDGHRDCSDYS

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.

TypePositionsDescription
Chain 36 – 282 CD320 antigen
Topological domain 36 – 229 Extracellular
Domain 131 – 168 LDL-receptor class A 2
Metal binding 150 – 150 Calcium 2; via carbonyl oxygen
Metal binding 153 – 153 Calcium 2
Metal binding 155 – 155 Calcium 2; via carbonyl oxygen
Metal binding 157 – 157 Calcium 2
Glycosylation 126 – 126 N-linked (GlcNAc...) asparagine
Disulfide bond 132 – 145
Disulfide bond 139 – 158
Beta strand 140 – 143


Literature citations

Positive newborn screen for methylmalonic aciduria identifies the first mutation in TCblR/CD320, the gene for cellular uptake of transcobalamin-bound vitamin B(12).
Quadros E.V.; Lai S.-C.; Nakayama Y.; Sequeira J.M.; Hannibal L.; Wang S.; Jacobsen D.W.; Fedosov S.; Wright E.; Gallagher R.C.; Anastasio N.; Watkins D.; Rosenblatt D.S.;
Hum. Mutat. 31:924-929(2010)
Cited for: FUNCTION; INVOLVEMENT IN MMATC; VARIANT MMATC GLU-88 DEL; CHARACTERIZATION OF VARIANT MMATC GLU-88 DEL; VARIANTS GLY-142 AND ARG-220;

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.