UniProtKB/Swiss-Prot Q8NDZ2: Variant p.Lys463Arg

SUMO-interacting motif-containing protein 1
Gene: SIMC1
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Variant information Variant position:

463 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 Lysine (K) to Arginine (R) at position 463 (K463R, p.Lys463Arg). 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:

Similar physico-chemical property. Both residues are large size and basic. 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
Other resources:

Links to websites of interest for the variant.

Variant rs17857141 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

HHLFFQTLIPDKDTRENKGQ K LEPIPHRRLRMVTNTIEENF 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                         HHLFFQTLIPDKDTRENKGQKLEPIPHRRLRMVTNTIEENF

Mouse                         HHLFFQTLIPDKDTRESKGQKLEPIPHRRLRMVTNTIEENF

Rat                           HHLFFQTLIPDKDTRESKGQKLEPIPHRRLRMVTNTIEENF

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	1 – 872	SUMO-interacting motif-containing protein 1
Region	381 – 872	Interaction with SLF2
Region	459 – 872	Required for inhibition of CAPN3 protease activity
Alternative sequence	1 – 539	Missing. In isoform 4.
Alternative sequence	416 – 872	Missing. In isoform 2.
Mutagenesis	473 – 473	R -> D. Loss of interaction with SMC6; when associated with A-477, K-480 and K-481.
Mutagenesis	477 – 477	N -> A. Loss of interaction with SMC6; when associated with D-473, K-480 and K-481.
Mutagenesis	480 – 480	E -> K. Loss of interaction with SMC6; when associated with D-473, A-477 and K-481.
Mutagenesis	481 – 481	E -> K. Loss of interaction with SMC6; when associated with D-473, A-477 and K-480.

Literature citations
PLEIAD/SIMC1/C5orf25, a novel autolysis regulator for a skeletal-muscle-specific calpain, CAPN3, scaffolds a CAPN3 substrate, CTBP1.
Ono Y.; Iemura S.; Novak S.M.; Doi N.; Kitamura F.; Natsume T.; Gregorio C.C.; Sorimachi H.;
J. Mol. Biol. 425:2955-2972(2013)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 5); ALTERNATIVE SPLICING (ISOFORM 1); VARIANTS ARG-463 AND ARG-772; FUNCTION (ISOFORMS 1 AND 5); SUBCELLULAR LOCATION (ISOFORM 5); INTERACTION WITH CAPN3 AND CTBP1 (ISOFORMS 1 AND 5); TISSUE SPECIFICITY (ISOFORM 5); The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
The MGC Project Team;
Genome Res. 14:2121-2127(2004)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1; 3 AND 4); VARIANTS ARG-463 AND ARG-772;

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.