UniProtKB/Swiss-Prot P02766: Variant p.Gly26Ser

Transthyretin
Gene: TTR
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Variant information Variant position:

26 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 Glycine (G) to Serine (S) at position 26 (G26S, p.Gly26Ser). 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 small size and polar (S) 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
Other resources:

Links to websites of interest for the variant.

Variant rs1800458 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

LLLLCLAGLVFVSEAGPTGT G ESKCPLMVKVLDAVRGSPAI 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                         LLLLCLAGLVFVSEAG-PT----GTGESKCPLMVKVLDAVRGSPAI

Chimpanzee                    LLLLCLAGLVFVSEAG-PT----GTGESKCPLMVKVLDAVR

Mouse                         LFLLCLAGLVFVSEAG-PA----GAGESKCPLMVKVLDAVR

Rat                           LFLLCLAGLIFASEAG-PG----GAGESKCPLMVKVLDAVR

Pig                           LLLLCLAGLVFVSEAG-PA----GAGESKCPLMVKVLDAVR

Bovine                        LFLLCLAGLVFVSEAG-SV----GAGEPKCPLMVKVLDAVR

Rabbit                        ---------------G-PV----GTGDSKCPLMVKVLDAVR

Sheep                         LLLLCLAGLVFVSEAS-PA----GAGESKCPLMVKVLDAVR

Chicken                       TLLVFLAGLVFLSEAA-PL-VSHGSVDSKCPLMVKVLDAVR

Xenopus laevis                SFLL-LALLAIVSEAAPPGHASHGEADSKCPLMVKVLDAVR

Xenopus tropicalis            SFLL-LALLAIASEAA-PGHVSHGEADSKCPLMVKVLDAVR

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	21 – 147	Transthyretin
Binding site	35 – 35
Modified residue	30 – 30	Sulfocysteine
Turn	23 – 26

Literature citations
Primary structure of an amyloid prealbumin variant in familial polyneuropathy of Jewish origin.
Pras M.; Prelli F.; Franklin E.C.; Frangione B.;
Proc. Natl. Acad. Sci. U.S.A. 80:539-542(1983)
Cited for: PRELIMINARY PROTEIN SEQUENCE OF 21-147; VARIANT SER-26; A double-variant transthyretin allele (Ser 6, Ile 33) in the Israeli patient 'SKO' with familial amyloidotic polyneuropathy.
Jacobson D.R.; Buxbaum J.N.;
Hum. Mutat. 3:254-260(1994)
Cited for: VARIANT SER-26; VARIANT AMYLD1 ILE-53; A new amyloidogenic transthyretin variant (Val122Ala) found in a compound heterozygous patient.
Theberge R.; Connors L.; Skare J.; Skinner M.; Falk R.H.; Costello C.E.;
Amyloid 6:54-58(1999)
Cited for: VARIANT AMYLD1 ALA-142; VARIANT SER-26; IDENTIFICATION BY MASS SPECTROMETRY; Characterization of transthyretin variants in familial transthyretin amyloidosis by mass spectrometric peptide mapping and DNA sequence analysis.
Lim A.; Prokaeva T.; McComb M.E.; O'Connor P.B.; Theberge R.; Connors L.H.; Skinner M.; Costello C.E.;
Anal. Chem. 74:741-751(2002)
Cited for: VARIANTS SER-26 AND MET-139; VARIANTS AMYLD1 ALA-58; LEU-61; SER-64 AND LEU-84; IDENTIFICATION BY MASS SPECTROMETRY; Identification of transthyretin variants by sequential proteomic and genomic analysis.
Bergen H.R. III; Zeldenrust S.R.; Butz M.L.; Snow D.S.; Dyck P.J.; Dyck P.J.B.; Klein C.J.; O'Brien J.F.; Thibodeau S.N.; Muddiman D.C.;
Clin. Chem. 50:1544-1552(2004)
Cited for: VARIANTS SER-26; CYS-53 AND ALA-114; VARIANTS AMYLD1 GLU-67; HIS-78; ALA-80 AND TYR-97; IDENTIFICATION BY MASS SPECTROMETRY;

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.