UniProtKB/Swiss-Prot P28288: Variant p.Gly17Asp

ATP-binding cassette sub-family D member 3
Gene: ABCD3
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Variant information Variant position:

17 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 Aspartate (D) at position 17 (G17D, p.Gly17Asp). 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 medium size and acidic (D) 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 rs121917999 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

MAAFSKYLTARNSSLA G AAFLLLCLLHKRRRALGLHG 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                         MAAFSKYLTARNSSLAGAAFLLLCLLHKRRRALGLHG

Mouse                         MAAFSKYLTARNTSLAGAAFLLLCLLHKRRRALGLHG

Rat                           MAAFSKYLTARNSSLAGAAFLLFCLLHKRRRALGLHG

Slime mold                    VNNITETLNSSSSSSSSS---------------GSSS

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 – 659	ATP-binding cassette sub-family D member 3
Region	1 – 61	Interaction with PEX19
Glycosylation	12 – 12	N-linked (GlcNAc...) asparagine

Literature citations
Mutations in the 70K peroxisomal membrane protein gene in Zellweger syndrome.
Gaertner J.; Moser H.; Valle D.;
Nat. Genet. 1:16-23(1992)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANT ASP-17;

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.