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UniProtKB/Swiss-Prot P04921: Variant p.Ala23Ser

Gene: GYPC
Variant information

Variant position:  23
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 Alanine (A) to Serine (S) at position 23 (A23S, p.Ala23Ser).
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 hydrophobic (A) to small size and polar (S)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  1
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

Polymorphism:  GYPC is responsible for the Gerbich blood group system (Ge) [MIM:616089]. Ge negative individuals carry a deletion of GYPC exon 3.Deletion of exon 3 in GYPC results in resistance to Plasmodium falciparum invasion and protection against severe malaria [MIM:611162]. -
Additional information on the polymorphism described.

Variant description:  Ahonen (AN(a)) antigen.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.

Sequence information

Variant position:  23
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  128
The length of the canonical 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.


Mouse                         -MSSPVSKPPPELLEPNPGKSYG------------------

Rat                           -MSSPVRTPPPERLEPNPGMSYA------------------

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.

Chain 1 – 128 Glycophorin-C
Topological domain 1 – 57 Extracellular
Region 1 – 48 Disordered
Compositional bias 21 – 35 Polar residues
Site 8 – 8 Not glycosylated; in variant Webb antigen
Glycosylation 3 – 3 O-linked (GalNAc...) serine
Glycosylation 4 – 4 O-linked (GalNAc...) threonine
Glycosylation 6 – 6 O-linked (GalNAc...) serine
Glycosylation 8 – 8 N-linked (GlcNAc...) asparagine
Glycosylation 9 – 9 O-linked (GalNAc...) serine
Glycosylation 10 – 10 O-linked (GalNAc...) threonine
Glycosylation 15 – 15 O-linked (GalNAc...) serine
Glycosylation 24 – 24 O-linked (GalNAc...) serine
Glycosylation 26 – 26 O-linked (GalNAc...) serine
Glycosylation 27 – 27 O-linked (GalNAc...) threonine
Glycosylation 28 – 28 O-linked (GalNAc...) threonine
Glycosylation 31 – 31 O-linked (GalNAc...) threonine
Glycosylation 32 – 32 O-linked (GalNAc...) threonine
Glycosylation 33 – 33 O-linked (GalNAc...) threonine
Glycosylation 42 – 42 O-linked (GalNAc...) serine
Alternative sequence 18 – 36 Missing. In isoform 3.

Literature citations

A point mutation in the GYPC gene results in the expression of the blood group Ana antigen on glycophorin D but not on glycophorin C: further evidence that glycophorin D is a product of the GYPC gene.
Daniels G.; King M.J.; Avent N.D.; Khalid G.; Reid M.E.; Mallinson G.; Symthe J.; Cedergren B.;
Blood 82:3198-3203(1993)

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.