UniProtKB/Swiss-Prot P05160: Variant p.Arg115His

Coagulation factor XIII B chain
Gene: F13B
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Variant information Variant position:

115 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 Arginine (R) to Histidine (H) at position 115 (R115H, p.Arg115His). 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 large size and basic (R) to medium size and polar (H) 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 rs6003 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

DLSNGYISDVKLLYKIQENM R YGCASGYKTTGGKDEEVVQC 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                         DLSNGYISDVKLLYKIQENMRYGCASGYKTTGGKDEEVVQC

Mouse                         DLRNGYVSNDKVLYKLQERMSYGCSSGYKTTGGKDEEVVHC

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 – 661	Coagulation factor XIII B chain
Domain	89 – 148	Sushi 2
Disulfide bond	91 – 135

Literature citations
Nucleotide sequence of the gene for the b subunit of human factor XIII.
Bottenus R.E.; Ichinose A.; Davie E.W.;
Biochemistry 29:11195-11209(1990)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANT HIS-115; Amino acid sequence of the b subunit of human factor XIII, a protein composed of ten repetitive segments.
Ichinose A.; McMullen B.A.; Fujikawa K.; Davie E.W.;
Biochemistry 25:4633-4638(1986)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 2-661; PROTEIN SEQUENCE OF N-TERMINUS; VARIANT HIS-115; Submission
SeattleSNPs variation discovery resource;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS HIS-115; THR-342; ARG-350; PRO-529 AND GLU-569; Characterization of single-nucleotide polymorphisms in coding regions of human genes.
Cargill M.; Altshuler D.; Ireland J.; Sklar P.; Ardlie K.; Patil N.; Shaw N.; Lane C.R.; Lim E.P.; Kalyanaraman N.; Nemesh J.; Ziaugra L.; Friedland L.; Rolfe A.; Warrington J.; Lipshutz R.; Daley G.Q.; Lander E.S.;
Nat. Genet. 22:231-238(1999)
Cited for: VARIANTS VAL-49; HIS-115; ARG-350; VAL-388; SER-543 AND GLU-569;

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.