UniProtKB/Swiss-Prot P55157: Variant p.Asp384Ala

Microsomal triglyceride transfer protein large subunit
Gene: MTTP
Feedback?

Variant information Variant position:

384 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 Aspartate (D) to Alanine (A) at position 384 (D384A, p.Asp384Ala). 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 acidic (D) to small size and hydrophobic (A) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

-2 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
Variant description:

No loss on localization to the endoplasmic reticulum; does not reduce interaction with P4HB/PDI; reduces phospholipid or triglyceride transfer activity; does not inhibit apolipoprotein B secretion. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs17029215 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

TSAQTSDSLEAILDFLDFKS D SSIILQERFLYACGFASHPN 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                         TSAQTSDSLEAILDFLDFKSDSS---IILQERFLYACGFASHPN

Mouse                         TSAQTPDSLEAILDFLDFKSDSS---IILQERFLYACGFAT

Rat                           TSAQTPASLEAILDFLDFKSDSS---IILQERFLYACGFAS

Pig                           TSAQTPDSLDAILDFLDFKSDSN---IILQERFLYACGFAS

Zebrafish                     TSAQTPSSLSAILEFLDFSKKDG---LILQERFLYACGFAS

Caenorhabditis elegans        GGVGTAESITTAREVLLTASPDY------LDDLLFGISQSS

Drosophila                    GAVQTFDAHNATFGFLYKESETTSEQLDLLEKYLQSLAVAT

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	19 – 894	Microsomal triglyceride transfer protein large subunit
Domain	28 – 659	Vitellogenin
Alternative sequence	152 – 894	Missing. In isoform 2.

Literature citations
Loss of both phospholipid and triglyceride transfer activities of microsomal triglyceride transfer protein in abetalipoproteinemia.
Khatun I.; Walsh M.T.; Hussain M.M.;
J. Lipid Res. 54:1541-1549(2013)
Cited for: FUNCTION; INTERACTION WITH P4HB; SUBCELLULAR LOCATION; CHARACTERIZATION OF VARIANTS ABL HIS-540; ILE-590; GLU-746 AND TYR-780; CHARACTERIZATION OF VARIANT ALA-384; A novel abetalipoproteinemia genotype. Identification of a missense mutation in the 97-kDa subunit of the microsomal triglyceride transfer protein that prevents complex formation with protein disulfide isomerase.
Rehberg E.F.; Samson-Bouma M.-E.; Kienzle B.; Blinderman L.; Jamil H.; Wetterau J.R.; Aggerbeck L.P.; Gordon D.A.;
J. Biol. Chem. 271:29945-29952(1996)
Cited for: VARIANT ABL HIS-540; VARIANTS GLN-297 AND ALA-384; CHARACTERIZATION OF VARIANT ABL HIS-540; CHARACTERIZATION OF VARIANTS GLN-297 AND ALA-384; MUTAGENESIS OF ARG-540; FUNCTION; INVOLVEMENT IN ABL;

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.