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UniProtKB/Swiss-Prot P02647: Variant p.Gly50Arg

Apolipoprotein A-I
Gene: APOA1
Chromosomal location: 11q23-q24
Variant information

Variant position:  50
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Disease [Disclaimer]
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants implicated in disease according to literature reports.
  • Polymorphism: Variants not reported to be implicated in disease.
  • Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:  From Glycine (G) to Arginine (R) at position 50 (G50R, p.Gly50Arg).
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 glycine (G) to large size and basic (R)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -2
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

Involvement in disease:  Amyloidosis 8 (AMYL8) [MIM:105200]: A form of hereditary generalized amyloidosis. Clinical features include extensive visceral amyloid deposits, renal amyloidosis resulting in nephrotic syndrome, arterial hypertension, hepatosplenomegaly, cholestasis, petechial skin rash. There is no involvement of the nervous system. {ECO:0000269|PubMed:1502149, ECO:0000269|PubMed:2123470, ECO:0000269|PubMed:3142462, ECO:0000269|PubMed:8208902}. Note=The disease is caused by mutations affecting the gene represented in this entry.
The name and a short description of the disease associated with the variant. For more information about the disease, the user can refer to OMIM, following the link provided after the disease acronym.

Variant description:  In AMYL8; also found in a family with amyloid polyneuropathy-nephropathy Iowa.
Any additional useful information about the variant.

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



Sequence information

Variant position:  50
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  267
The length of the canonical sequence.

Location on the sequence:   SPWDRVKDLATVYVDVLKDS  G RDYVSQFEGSALGKQLNLKL
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                         SPWDRVKDLATVYVDVLKDSGRDYVSQFEGSALGKQLNLKL

Gorilla                       SPWDRVKDLATVYVDVLKDSGRDYVSQFEGSALGKQLNLKL

                              SPWDRVKDLATVYVDAVKDSGRDYVAQFEASALGKQLNLKL

Rhesus macaque                TPWDRVKDLVTVYVEALKDSGKDYVSQFEGSALGKQLNLKL

Chimpanzee                    SPWDRVKDLATVYVDVLKDSGRDYVSQFEGSALGKQLNLKL

Mouse                         SQWDKVKDFANVYVDAVKDSGRDYVSQFESSSLGQQLNLNL

Rat                           SQWDRVKDFATVYVDAVKDSGRDYVSQFESSTLGKQLNLNL

Pig                           SPWDRVKDFATVYVDAIKDSGRDYVAQFEASALGKHLNLKL

Bovine                        SSWDRVKDFATVYVEAIKDSGRDYVAQFEASALGKQLNLKL

Rabbit                        SSWDKIKDFATVYVDTVKDSGREYVAQFEASAFGKQLNLKL

Chicken                       TPLDRIRDMVDVYLETVKASGKDAIAQFESSAVGKQLDLKL

Zebrafish                     TQLEHYKAAALVYLNQVKDQAEKALDNLDGTDY-EQYKLQL

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 19 – 267 Proapolipoprotein A-I
Chain 25 – 267 Apolipoprotein A-I
Chain 25 – 266 Truncated apolipoprotein A-I
Helix 45 – 59


Literature citations

Variant apolipoprotein AI as a major constituent of a human hereditary amyloid.
Nichols W.C.; Dwulet F.E.; Liepnieks J.; Benson M.D.;
Biochem. Biophys. Res. Commun. 156:762-768(1988)
Cited for: PROTEIN SEQUENCE OF 25-107; VARIANT AMYL8 ARG-50;

A mutation in apolipoprotein A-I in the Iowa type of familial amyloidotic polyneuropathy.
Nichols W.C.; Gregg R.E.; Brewer H.B. Jr.; Benson M.D.;
Genomics 8:318-323(1990)
Cited for: VARIANT AMYL8 ARG-50;

Familial nephropathic systemic amyloidosis caused by apolipoprotein AI variant Arg26.
Vigushin D.M.; Gough J.; Allan D.; Alguacil A.; Penner B.; Pettigrew N.M.; Quinonez G.; Bernstein K.; Booth S.E.; Booth D.R.; Soutar A.K.; Hawkins P.N.; Pepys M.B.;
Q. J. Med. 87:149-154(1994)
Cited for: VARIANT AMYL8 ARG-50;

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.