UniProtKB/Swiss-Prot Q9Y5Y5: Variant p.Val116Ile

Peroxisomal membrane protein PEX16
Gene: PEX16
Feedback?

Variant information Variant position:

116 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 Valine (V) to Isoleucine (I) at position 116 (V116I, p.Val116Ile). 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:

Similar physico-chemical property. Both residues are medium size and hydrophobic. The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

3 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 rs10742772 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

MEMGAAKVWGEVGRWLVIAL V QLAKAVLRMLLLLWFKAGLQ 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                         MEMGAAKVWGEVG--------------RWLVIALVQLAKAVLRMLLLL-----------WF----------------KAGLQ

Mouse                         MEMGAAKVWGEVG--------------RWLVIALIQLAKAV

Bovine                        MEMGATKVWGEVG--------------RWLVIALIQLAKAV

Xenopus laevis                IEIGAARAWGERS--------------RWAAILIIQLLKAC

Xenopus tropicalis            IEIGAARAWGDRT--------------RWAAILIIQLLKAC

Zebrafish                     VEMAAAKMWGDAG--------------RWLVIVLIQIAKAV

Slime mold                    FEMLATKK-GEQHDDSNSNNNNSNNNIKKMIIFIIELLKAI

Fission yeast                 IELVISKYNPSR---------------QYDSVLFLESVKFL

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 – 336	Peroxisomal membrane protein PEX16
Transmembrane	111 – 131	Helical

Literature citations
Mutation in PEX16 is causal in the peroxisome-deficient Zellweger syndrome of complementation group D.
Honsho M.; Tamura S.; Shimozawa N.; Suzuki Y.; Kondo N.; Fujiki Y.;
Am. J. Hum. Genet. 63:1622-1630(1998)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); INVOLVEMENT IN PBD-CG9 AND PBD8A; VARIANT ILE-116; Peroxisome synthesis in the absence of preexisting peroxisomes.
South S.T.; Gould S.J.;
J. Cell Biol. 144:255-266(1999)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANT ILE-116; The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
The MGC Project Team;
Genome Res. 14:2121-2127(2004)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2); VARIANT ILE-116;

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.