UniProtKB/Swiss-Prot Q13608: Variant p.Ala924Ser

Peroxisomal ATPase PEX6
Gene: PEX6
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Variant information Variant position:

924 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 Alanine (A) to Serine (S) at position 924 (A924S, p.Ala924Ser). 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 small size and hydrophobic (A) to small size and polar (S) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

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
Other resources:

Links to websites of interest for the variant.

Variant rs34551839 [ dbSNP | Ensembl ]

Sequence information Variant position:

924 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

980 The length of the canonical sequence.
Location on the sequence:

CCPPQLTGADLYSLCSDAMT A ALKRRVHDLEEGLEPGSSAL 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                         CCPPQLTGADLYSLCSDAMTAALKRRVHDLEE---------GLEP---G---------SSAL

Mouse                         CCPPQLTGADLYSLCSDAMMTALKRRVRDLEE---------

Rat                           CCPPQLTGADLYSLCSDAMMTALKRRVRDLEE---------

Slime mold                    NCPMNLTGADFYALASDAMSNAFHERITASIN---------

Baker's yeast                 LCPFNYTGADFYALCSDAMLNAMSRIARMVEKKVSQHNELT

Fission yeast                 NCHPNFTGADMYALCSDAVLSAIKRKTNEIDLLIQAS----

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.

Type	Positions	Description
Chain	1 – 980	Peroxisomal ATPase PEX6
Alternative sequence	739 – 980	Missing. In isoform 2.

Literature citations
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: INVOLVEMENT IN PBD-CG4; INVOLVEMENT IN HMLR2; VARIANTS PBD-CG4 THR-849; GLN-860 AND TRP-860; VARIANTS HMLR2 LEU-274 AND GLN-601; VARIANTS PRO-79; VAL-809; ILE-882; SER-924 AND GLN-939;

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.