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UniProtKB/Swiss-Prot Q8WUM4: Variant p.Gly429Ser

Programmed cell death 6-interacting protein
Gene: PDCD6IP
Variant information

Variant position:  429
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 Glycine (G) to Serine (S) at position 429 (G429S, p.Gly429Ser).
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 glycine (G) to small size and polar (S)
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:  429
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  868
The length of the canonical sequence.

Location on the sequence:   SGDTVPQSILTKSRSVIEQG  G IQTVDQLIKELPELLQRNRE
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                         SGDTVPQSILTKSRSVIEQGGIQTVDQLIKELPELLQRNRE

Mouse                         SGDTVPQSILTKSTSVVEQGGIQTVDQLIKELPELLQRNRE

Rat                           SGDTVPQSILTKSTAVVEQGGIQTVDQLIKELPELLQRNRE

Xenopus laevis                SGDSIPQSILNKSKTVIEQGGIQTIGQLIRDLPELLQRNKE

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 – 868 Programmed cell death 6-interacting protein
Region 176 – 868 Interaction with EIAV p9
Region 176 – 503 Interaction with CHMP4A, CHMP4B and CHMP4C
Region 418 – 868 Interaction with SDCBP
Alternative sequence 272 – 868 Missing. In isoform 3.
Turn 427 – 429


Literature citations

Exome-sequencing confirms DNAJC5 mutations as cause of adult neuronal ceroid-lipofuscinosis.
Benitez B.A.; Alvarado D.; Cai Y.; Mayo K.; Chakraverty S.; Norton J.; Morris J.C.; Sands M.S.; Goate A.; Cruchaga C.;
PLoS ONE 6:E26741-E26741(2011)
Cited for: VARIANT SER-429;

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.