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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O00623: Variant p.Arg34Ser

Peroxisome assembly protein 12
Gene: PEX12
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Variant information Variant position: help 34 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 Arginine (R) to Serine (S) at position 34 (R34S, p.Arg34Ser). 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 small size and polar (S) 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 PBD-CG3; benign. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 34 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 359 The length of the canonical sequence.
Location on the sequence: help ADDQPSIFEVVAQDSLMTAV R PALQHVVKVLAESNPTHYGF 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                         ADDQPSIFEVVAQDSLMTAVRPALQHVV-KVLAESNPTHY-GF

Mouse                         ADDQPSIFEVVAQDSLMTAVRPALQHVV-KVLAESNPAHY-

Rat                           ADDQPSIFEVVAQDSLMTAVRPALQHVV-KVLAESNPAHY-

Bovine                        VDDQPSIFEVVAQDSLMSAVRPALQHVV-KVLAESNPAHF-

Caenorhabditis elegans        EEKQPSVFDIIAQENLATSIRPALQHLV-KYLAFFKPKTF-

Drosophila                    LQNVPSIFEISASETLDNLIYPALSKIF-DYFGLRLDFKL-

Slime mold                    DPNRPSFFEMLNQHQMMPSFKPALKYIF-TVLSQRNPK-F-

Baker's yeast                 EPLYPTIFEIMSSQEIDSLLPASIRYLLANHLVANFPNRYT

Fission yeast                 -MDSPSLLEVLQVQQVEKLISPSLRFIL-AYFTHRYPRFL-
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 – 359 Peroxisome assembly protein 12
Transmembrane 20 – 47 Helical; Name=TM1



Literature citations
A novel PEX12 mutation identified as the cause of a peroxisomal biogenesis disorder with mild clinical phenotype, mild biochemical abnormalities in fibroblasts and a mosaic catalase immunofluorescence pattern, even at 40 degrees C.
Zeharia A.; Ebberink M.S.; Wanders R.J.A.; Waterham H.R.; Gutman A.; Nissenkorn A.; Korman S.H.;
J. Hum. Genet. 52:599-606(2007)
Cited for: VARIANT PBD-CG3 SER-34; Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders.
Yik W.Y.; Steinberg S.J.; Moser A.B.; Moser H.W.; Hacia J.G.;
Hum. Mutat. 30:E467-E480(2009)
Cited for: VARIANTS PBD-CG3 SER-34; GLN-178 DEL AND GLN-349 DEL; VARIANT PBD3B PHE-320; VARIANT ILE-245;
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.