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UniProtKB/Swiss-Prot Q86WB0: Variant p.Arg363His

Nuclear-interacting partner of ALK
Gene: ZC3HC1
Chromosomal location: 7q32.2
Variant information

Variant position:  363
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Polymorphism
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants implicated in disease according to literature reports.
  • Polymorphism: Variants not reported to be implicated in disease.
  • Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:  From Arginine (R) to Histidine (H) at position 363 (R363H, p.Arg363His).
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.



Sequence information

Variant position:  363
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  502
The length of the canonical sequence.

Location on the sequence:   KSPGPIVSRTRSWDSSSPVD  R PEPEAASPTTRTRPVTRSMG
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                         KSPGPIVSRTRSWDSSSPVDRPEPEAASPTTRTRPVTRSMG

Mouse                         KSPGPIVSRTRSWESSSPVDRPELEAASPTTRSRPVTRSMG

Xenopus laevis                QSPAFAYGRTRSSDLLSPAD-------SEAVRNRPVTRSMG

Xenopus tropicalis            QSPALAYGRTRSSDLLSPAD-------SEAVRSRPVTRSMG

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.

TypePositionsDescription
Chain 2 – 502 Nuclear-interacting partner of ALK
Modified residue 344 – 344 Phosphoserine
Modified residue 354 – 354 Phosphoserine
Modified residue 359 – 359 Phosphoserine
Modified residue 370 – 370 Phosphoserine
Modified residue 381 – 381 Phosphoserine
Alternative sequence 341 – 411 Missing. In isoform 3.
Mutagenesis 354 – 354 S -> A. Strongly reduces phosphorylation and induces the formation of a constitutive SCF(NIPA) E3 complex that degrades CCNB1 at G2/M phase and delays mitotic entry.


Literature citations

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] (ISOFORM 1); VARIANTS ALA-271 AND HIS-363;

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.