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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q96LT9: Variant p.Pro474Thr

RNA-binding region-containing protein 3
Gene: RNPC3
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Variant information Variant position: help 474 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] 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 Proline (P) to Threonine (T) at position 474 (P474T, p.Pro474Thr). 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 hydrophobic (P) to medium size and polar (T) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -1 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
Variant description: help In CPHD7; impairs binding to U12 and U6atac small nuclear RNAs; leads to a partial defect in the folding of RRM 2 domain and reduced stability of the full-length protein. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 474 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 517 The length of the canonical sequence.
Location on the sequence: help MFDIRLMKEGRMKGQAFIGL P NEKAAAKALKEANGYVLFGK 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                         MFDIRLMKEGRMKGQAFIGLPNEKAAAKALKEANGYVLFGK

Mouse                         MFDIRLMKEGRMKGQAFVGLPNEKAAAKALKEANGYVLFGK

Rat                           MFDIRLMKEGRMKGQAFVGLPNEKAAAKALKEANGYVLFGK

Bovine                        MFDIRLMKEGRMKGQAFIGLPNEKAAAKALKEANGYVLFGK

Zebrafish                     MFDIVLMKEGRMKGQAFIGLPSERSAQKALKETNGYVLKDK
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 – 517 RNA-binding region-containing protein 3
Domain 420 – 503 RRM 2



Literature citations
Defective minor spliceosome mRNA processing results in isolated familial growth hormone deficiency.
Argente J.; Flores R.; Gutierrez-Arumi A.; Verma B.; Martos-Moreno G.A.; Cusco I.; Oghabian A.; Chowen J.A.; Frilander M.J.; Perez-Jurado L.A.;
EMBO Mol. Med. 6:299-306(2014)
Cited for: INVOLVEMENT IN CPHD7; VARIANTS CPHD7 THR-474 AND 502-ARG--CYS-517 DEL; FUNCTION; Mutations in the U11/U12-65K protein associated with isolated growth hormone deficiency lead to structural destabilization and impaired binding of U12 snRNA.
Norppa A.J.; Kauppala T.M.; Heikkinen H.A.; Verma B.; Iwai H.; Frilander M.J.;
RNA 24:396-409(2018)
Cited for: CHARACTERIZATION OF VARIANTS CPHD7 THR-474 AND 502-ARG--CYS-517 DEL; FUNCTION; STRUCTURE BY NMR OF 381-516;
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.