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UniProtKB/Swiss-Prot P01024: Variant p.Ser1619Arg

Complement C3
Gene: C3
Variant information

Variant position:  1619
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 Arginine (R) at position 1619 (S1619R, p.Ser1619Arg).
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 large size and basic (R)
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:  There are two alleles: C3S (C3 slow), the most common allele in all races and C3F (C3 fast), relatively frequent in Caucasians, less common in Black Americans, extremely rare in Orientals.
Additional information on the polymorphism described.

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



Sequence information

Variant position:  1619
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  1663
The length of the canonical sequence.

Location on the sequence:   KKHYLMWGLSSDFWGEKPNL  S YIIGKDTWVEHWPEEDECQD
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                         KKHYLMWGLSSDFWGEKPNLSYIIGKDTWVEHWPEEDECQD

Mouse                         GKKYLMWGLSSDLWGEKPNTSYIIGKDTWVEHWPEAEECQD

Rat                           GKQYLMWGLSSDLWGEKPNTSYIIGKDTWVEHWPEAEERQD

Pig                           GGHYLVWGVSSDLWGEKPNISYIIGKDTWVELWPDGDVCQD

Bovine                        GAHYLVWGVSSDLWGEKPKISYIIGKDTWVELWPEAEECQD

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 23 – 1663 Complement C3
Chain 672 – 1663 Complement C3 alpha chain
Chain 749 – 1663 Complement C3b alpha' chain
Chain 1321 – 1663 Complement C3c alpha' chain fragment 2
Domain 1518 – 1661 NTR
Glycosylation 1617 – 1617 N-linked (GlcNAc...) asparagine
Disulfide bond 1537 – 1661
Beta strand 1619 – 1621


Literature citations

No reference for the current variant in UniProtKB/Swiss-Prot.

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.