UniProtKB/Swiss-Prot O60683: Variant p.Thr274Ala

Peroxisome biogenesis factor 10
Gene: PEX10
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Variant information Variant position:

274 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 Threonine (T) to Alanine (A) at position 274 (T274A, p.Thr274Ala). 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 medium size and polar (T) to small size and hydrophobic (A) 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.

Variant rs34154371 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

GLSHRRASLEERAVSRNPLC T LCLEERRHPTATPCGHLFCW 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                         GLSHRRASLEERAVSRNP----LCTLCLEERRHPTATPCGHLFCW

Mouse                         NLSHRRSSLEDRAVCRTP----LCTLCLEERRHSTATPCGH

Caenorhabditis elegans        GGSDRNLDENSLFHPTF-----QCSICLENK-NPSALFCGH

Slime mold                    VDSVINNNNQDQNNNQEEEEEQKCTLCLEVRTHTTATICGH

Baker's yeast                 QLTHINLSDKNQ-LPFIPEASRKCILCLMNMSDPSCAPCGH

Fission yeast                 ITDERDLEDKNK-LPFIPEGNRKCSLCMEFIHCPAATECGH

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 – 326	Peroxisome biogenesis factor 10
Topological domain	237 – 326	Cytoplasmic
Zinc finger	273 – 311	RING-type
Binding site	273 – 273
Binding site	276 – 276
Binding site	288 – 288
Binding site	290 – 290
Binding site	293 – 293
Mutagenesis	273 – 273	C -> A. Abolished E3 ubiquitin-protein ligase activity.

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: VARIANT ALA-274; INVOLVEMENT IN PBD-CG7;

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.