UniProtKB/Swiss-Prot O75340: Variant p.Gly123Cys

Programmed cell death protein 6
Gene: PDCD6
Feedback?

Variant information Variant position:

123 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

US 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 Cysteine (C) at position 123 (G123C, p.Gly123Cys). 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 medium size and polar (C) 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
Variant description:

In a breast cancer sample; somatic mutation. Any additional useful information about the variant.

Sequence information Variant position:

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

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

DRDNSGMIDKNELKQALSGF G YRLSDQFHDILIRKFDRQGR 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                         DRDNSGMIDKNELKQALSGFGYRLSDQFHDILIRKFDRQGR

Mouse                         DRDNSGMIDKNELKQALSGFGYRLSDQFHDILIRKFDRQGR

Rat                           DRDNSGMIDKHELKQALSGFGYRLSDQFHDILIRKFDRQGR

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 – 191	Programmed cell death protein 6
Domain	90 – 125	EF-hand 3
Binding site	103 – 103
Binding site	105 – 105
Binding site	107 – 107
Binding site	109 – 109
Binding site	114 – 114
Alternative sequence	70 – 191	Missing. In isoform 3.
Mutagenesis	114 – 114	E -> A. Loss of interaction with SEC31A and PLSCR3, and loss of localization to the endoplasmic reticulum; when associated with A-47.
Mutagenesis	122 – 122	F -> A. Increases interaction with PDCD6IP and ANXA7. Impairs interaction with ANXA11. Augments stauroporine-induced cell death.
Mutagenesis	122 – 122	F -> G. Increases interaction with PDCD6IP. Impairs interaction with ANXA11.
Mutagenesis	122 – 122	F -> S. Increases interaction with PDCD6IP. Impairs interaction with ANAX7 and ANXA11.
Mutagenesis	122 – 122	F -> W. Impairs interaction with ANXA11.

Literature citations
The consensus coding sequences of human breast and colorectal cancers.
Sjoeblom T.; Jones S.; Wood L.D.; Parsons D.W.; Lin J.; Barber T.D.; Mandelker D.; Leary R.J.; Ptak J.; Silliman N.; Szabo S.; Buckhaults P.; Farrell C.; Meeh P.; Markowitz S.D.; Willis J.; Dawson D.; Willson J.K.V.; Gazdar A.F.; Hartigan J.; Wu L.; Liu C.; Parmigiani G.; Park B.H.; Bachman K.E.; Papadopoulos N.; Vogelstein B.; Kinzler K.W.; Velculescu V.E.;
Science 314:268-274(2006)
Cited for: VARIANT [LARGE SCALE ANALYSIS] CYS-123;

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.