UniProtKB/Swiss-Prot Q14849: Variant p.Gly216Ala

StAR-related lipid transfer protein 3
Gene: STARD3
Feedback?

Variant information Variant position:

216 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 Alanine (A) at position 216 (G216A, p.Gly216Ala). 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 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 rs11556624 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

LLFSGALSEGQFYSPPESFA G SDNESDEEVAGKKSFSAQER 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                         LLFSGALSEGQFYSPPESFAGSDNESDEEVAGKKSFSAQER

Rhesus macaque                LLFSGALSEGQFYSPPESFAGSDNESDEEVAGKKSFSAQER

Mouse                         LLFSGALSEGQFYSPPESFAGSDNESDEEVTGKKSFSAQER

Zebrafish                     LICPRPVSDGQFYSPPESLAGSEDDLDEEGLGRRAVTEQEK

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 – 445	StAR-related lipid transfer protein 3
Topological domain	170 – 445	Cytoplasmic
Domain	46 – 217	MENTAL
Modified residue	209 – 209	Phosphoserine
Mutagenesis	209 – 209	S -> A. Impairs VAPA and VAPB interaction. Does not affect endoplasmic reticulum membrane location of VAPA, VAPB and MOSPD2. Is unable to make ER-endosome contacts. Does not accumulate cholesterol in late endosomes (LEs). Does not interact with MOSPD2.
Mutagenesis	209 – 209	S -> D. Does not affect VAPA and VAPB interactions; when associated with A-210. Does not interact with VAPA and VAPB. Recruits VAPA and VAPB around the endosome; when associated with A-210. Restores cholesterol accumulation in late endosomes; when associated with A-210. Moderately interacts with MOSPD2. Almost impairs interaction with MOSPD2; when associated with A-210.
Mutagenesis	210 – 210	P -> A. Does not affect VAPA and VAPB interactions; when associated with D-209. Improve VAPA interaction. Does not interact with VAPA and VAPB. Recruits VAPA and VAPB around the endosome; when associated with D-209.Restores cholesterol accumulation in late endosomes; when associated with A-209. Almost impairs interaction with MOSPD2; when associated with A-209.
Mutagenesis	219 – 219	N -> A. Does not affect localization to late endosomes.

Literature citations
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] (ISOFORM 1); VARIANTS GLN-117 AND ALA-216;

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.