UniProtKB/Swiss-Prot P25054: Variant p.Val1822Asp

Adenomatous polyposis coli protein
Gene: APC
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Variant information Variant position:

1822 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 Valine (V) to Aspartate (D) at position 1822 (V1822D, p.Val1822Asp). 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 medium size and hydrophobic (V) to medium size and acidic (D) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

-3 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
Other resources:

Links to websites of interest for the variant.

Variant rs459552 [ dbSNP | Ensembl ]

Sequence information Variant position:

1822 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

2843 The length of the canonical sequence.
Location on the sequence:

ERVFSDNKDSKKQNLKNNSK V FNDKLPNNEDRVRGSFAFDS 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                         ERVFSDNKDSKKQNLKNNSKVFNDKLPNNEDRVRGSFAFDS

Mouse                         EETFSDNKDSKKPSLQTNAKAFNEKLPNNEDRVRGTFALDS

Rat                           EETFSDNKDSKKQSLKNNPKDLNDKLPDNEDRVRGGFTFDS

Xenopus laevis                ENQYC---DPRKPSSKKPSKVANEKIPNNEERTKG-FAFDS

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
Chain	2 – 2843	Adenomatous polyposis coli protein
Region	1729 – 1836	Disordered

Literature citations
Identification of deletion mutations and three new genes at the familial polyposis locus.
Joslyn G.; Carlson M.; Thliveris A.; Albertsen H.; Gelbert L.; Samowitz W.; Groden J.; Stevens J.; Spirio L.; Robertson M.; Sargeant L.; Krapcho K.; Wolff E.; Burt R.; Hughes J.P.; Warrington J.; McPherson J.D.; Wasmuth J.J.; le Paslier D.; Abderrahim H.; Cohen D.; Leppert M.; White R.;
Cell 66:601-613(1991)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1A AND 2); VARIANT ASP-1822; Identification of FAP locus genes from chromosome 5q21.
Kinzler K.W.; Nilbert M.C.; Su L.-K.; Vogelstein B.; Bryan T.M.; Levy D.B.; Smith K.J.; Preisinger A.C.; Hedge P.; McKechnie D.; Finniear R.; Markham A.; Groffen J.; Boguski M.S.; Altschul S.F.; Horii A.K.; Ando H.; Miyoshi Y.; Miki Y.; Nishisho I.; Nakamura Y.;
Science 253:661-665(1991)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1A); VARIANT ASP-1822; Submission
Mural R.J.; Istrail S.; Sutton G.G.; Florea L.; Halpern A.L.; Mobarry C.M.; Lippert R.; Walenz B.; Shatkay H.; Dew I.; Miller J.R.; Flanigan M.J.; Edwards N.J.; Bolanos R.; Fasulo D.; Halldorsson B.V.; Hannenhalli S.; Turner R.; Yooseph S.; Lu F.; Nusskern D.R.; Shue B.C.; Zheng X.H.; Zhong F.; Delcher A.L.; Huson D.H.; Kravitz S.A.; Mouchard L.; Reinert K.; Remington K.A.; Clark A.G.; Waterman M.S.; Eichler E.E.; Adams M.D.; Hunkapiller M.W.; Myers E.W.; Venter J.C.;
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]; VARIANT ASP-1822; Molecular analysis of the APC gene in 205 families: extended genotype-phenotype correlations in FAP and evidence for the role of APC amino acid changes in colorectal cancer predisposition.
Wallis Y.L.; Morton D.G.; McKeown C.M.; Macdonald F.;
J. Med. Genet. 36:14-20(1999)
Cited for: VARIANTS GLY-1057; CYS-1171; ASP-1822 AND THR-2738;

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.