UniProtKB/Swiss-Prot P61619: Variant p.Val85Asp

Protein transport protein Sec61 subunit alpha isoform 1
Gene: SEC61A1
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Variant information Variant position:

85 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 Aspartate (D) at position 85 (V85D, p.Val85Asp). 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 hydrophobic (V) to medium size and acidic (D) 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
Variant description:

Found in a family with hypogammaglobulinemia; likely pathogenic; decreased function in cotranslational protein targeting to endoplasmic reticulum. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs1553721236 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

MRVILASNRGTLMELGISPI V TSGLIMQLLAGAKIIEVGDT 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                         MRVILASNRGTLMELGISPIVTSGLIMQLLAGAKIIEVGDT

                              MRVILASNRGTLMELGISPIVTSGLIMQLLAGAKIIEVGDT

Mouse                         MRVILASNRGTLMELGISPIVTSGLIMQLLAGAKIIEVGDT

Rat                           MRVILASNRGTLMELGISPIVTSGLIMQLLAGAKIIEVGDT

Bovine                        MRVILASNRGTLMELGISPIVTSGLIMQLLAGAKIIEVGDT

Zebrafish                     MRVILASNRGTLMELGISPIVTSGLIMQLLAGAKIIEVGDT

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 – 476	Protein transport protein Sec61 subunit alpha isoform 1
Transmembrane	77 – 96	Helical
Alternative sequence	1 – 120	Missing. In isoform 3.
Helix	82 – 96

Literature citations
Plasma cell deficiency in human subjects with heterozygous mutations in Sec61 translocon alpha 1 subunit (SEC61A1).
Schubert D.; Klein M.C.; Hassdenteufel S.; Caballero-Oteyza A.; Yang L.; Proietti M.; Bulashevska A.; Kemming J.; Kuehn J.; Winzer S.; Rusch S.; Fliegauf M.; Schaeffer A.A.; Pfeffer S.; Geiger R.; Cavalie A.; Cao H.; Yang F.; Li Y.; Rizzi M.; Eibel H.; Kobbe R.; Marks A.L.; Peppers B.P.; Hostoffer R.W.; Puck J.M.; Zimmermann R.; Grimbacher B.;
J. Allergy Clin. Immunol. 141:1427-1438(2018)
Cited for: FUNCTION; VARIANT ASP-85; CHARACTERIZATION OF VARIANT ASP-85;

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.