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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9BXM0: Variant p.Arg1411Cys

Periaxin
Gene: PRX
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Variant information Variant position: help 1411 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help 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: help From Arginine (R) to Cysteine (C) at position 1411 (R1411C, p.Arg1411Cys). 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: help Change from large size and basic (R) to medium size and polar (C) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -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: help Links to websites of interest for the variant.


Sequence information Variant position: help 1411 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 1461 The length of the canonical sequence.
Location on the sequence: help RGQEGDAAPKSPVREKSPKF R FPRVSLSPKARSGSGDQEEG 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human                         RGQEGDAAPKSPVREKSPKFRFPRVSLSPKARSGSGDQEEG

Mouse                         KGQEGDATSKSPVGEKSPKFRFPRVSLSPKARSGSRDREEG

Rat                           KGQEGDAASKSPVGEKSPKFRFPRVSLSPKARSGSKDREEG

Bovine                        RGQEGKAAPKSPSGEKSPKFRFPRVSLSPKTRGGSGDQDEG

Sequence annotation in neighborhood: help 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.
TypePositionsDescription
Chain 1 – 1461 Periaxin
Region 1318 – 1461 Disordered
Modified residue 1401 – 1401 Phosphoserine
Modified residue 1407 – 1407 Phosphoserine
Alternative sequence 148 – 1461 Missing. In isoform 2.



Literature citations
Periaxin mutations cause recessive Dejerine-Sottas neuropathy.
Boerkoel C.F.; Takashima H.; Stankiewicz P.; Garcia C.A.; Leber S.M.; Rhee-Morris L.; Lupski J.R.;
Am. J. Hum. Genet. 68:325-333(2001)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2); TISSUE SPECIFICITY; VARIANTS THR-406; GLN-495; ALA-882; MET-921; GLU-935; ARG-1083; ARG-1132; LYS-1259; GLU-1359 DEL AND CYS-1411; INVOLVEMENT IN DSS;
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.