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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9Y5U2: Variant p.His274Pro

U5 small nuclear ribonucleoprotein TSSC4
Gene: TSSC4
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Variant information Variant position: help 274 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 Histidine (H) to Proline (P) at position 274 (H274P, p.His274Pro). 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 medium size and polar (H) to medium size and hydrophobic (P) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -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: help Links to websites of interest for the variant.


Sequence information Variant position: help 274 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 329 The length of the canonical sequence.
Location on the sequence: help PVELAHLAGPGSPEAEEWGS H HGGLQEVEALSGSVHSGSVP 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                         PVELAHLAGPGSPEAEEWGSHHGGLQEVEALSGSVHSGSVP

Mouse                         AVELAHLAGP---EAEEWSGHQGQ-PEVVVPSEAAHPESSS

Rat                           SVELAHLAGP---EAEEWSGHQGQ-PEVVVPSEAARPESSS

Bovine                        PVELAHLARPGSPEAEEWSGPRGGLQEVGASAGVAHARPGS

Zebrafish                     EALQQSSSWPNKEKKRKWGVTKEE-DDTVAPSAV-------

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 – 329 U5 small nuclear ribonucleoprotein TSSC4
Region 149 – 316 Interaction with SNRNP200
Region 221 – 329 Disordered
Modified residue 265 – 265 Phosphoserine



Literature citations
Two novel genes in the center of the 11p15 imprinted domain escape genomic imprinting.
Lee M.P.; Brandenburg S.; Landes G.M.; Adams M.; Miller G.; Feinberg A.P.;
Hum. Mol. Genet. 8:683-690(1999)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); TISSUE SPECIFICITY; VARIANT PRO-274; 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 AND 2); VARIANT PRO-274;
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.