UniProtKB/SwissProt variant VAR

Variant information

Variant position:

124

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 Proline (P) to Alanine (A) at position 124 (P124A, p.Pro124Ala).

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 (P) to small size and hydrophobic (A)

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 rs7535 [ dbSNP | Ensembl ]

Sequence information

Variant position:

124

The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:

136

The length of the canonical sequence.

Location on the sequence:

KKTKAAAAAAAAAPAAAATA P TTAATTAATAAQ

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                         KKTKAAAAAAAAAPAAAATAPTTAATTAATAAQ

                              KKSKPAQ--------------------------

Mouse                         KKSKPAQ--------------------------

Bovine                        KKSKAAQ--------------------------

Caenorhabditis elegans        KKKTGATKA------------------------

Slime mold                    TTTPSSSTTAKTAAKKTKV--------------

Baker's yeast                 NGTISKTGKKNKVAKKN----------------

Fission yeast                 KNKKKTTSSGHT---------------------

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	2 – 136	Signal recognition particle 14 kDa protein
Region	116 – 136	Disordered

Literature citations

The SRP9/14 subunit of the signal recognition particle (SRP) is present in more than 20-fold excess over SRP in primate cells and exists primarily free but also in complex with small cytoplasmic Alu RNAs.
Bovia F.; Fornallaz M.; Leffers H.; Strub K.;
Mol. Biol. Cell 6:471-484(1995)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANT ALA-124;

A novel gene encoding signal recognition particle 14kD is upregulated in the acute morphine dependent SH-SY5Y cells.
Wang H.; Gao X.; Huang Y.; Han J.;
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANT ALA-124;

Human protein factory for converting the transcriptome into an in vitro-expressed proteome.
Goshima N.; Kawamura Y.; Fukumoto A.; Miura A.; Honma R.; Satoh R.; Wakamatsu A.; Yamamoto J.; Kimura K.; Nishikawa T.; Andoh T.; Iida Y.; Ishikawa K.; Ito E.; Kagawa N.; Kaminaga C.; Kanehori K.; Kawakami B.; Kenmochi K.; Kimura R.; Kobayashi M.; Kuroita T.; Kuwayama H.; Maruyama Y.; Matsuo K.; Minami K.; Mitsubori M.; Mori M.; Morishita R.; Murase A.; Nishikawa A.; Nishikawa S.; Okamoto T.; Sakagami N.; Sakamoto Y.; Sasaki Y.; Seki T.; Sono S.; Sugiyama A.; Sumiya T.; Takayama T.; Takayama Y.; Takeda H.; Togashi T.; Yahata K.; Yamada H.; Yanagisawa Y.; Endo Y.; Imamoto F.; Kisu Y.; Tanaka S.; Isogai T.; Imai J.; Watanabe S.; Nomura N.;
Nat. Methods 5:1011-1017(2008)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]; VARIANT ALA-124;

Submission
Mural R.J.; Istrail S.; Sutton G.G.; Florea L.; Halpern A.L.; Mobarry C.M.; Lippert R.; Walenz B.; Shatkay H.; Dew I.; Miller J.R.; Flanigan M.J.; Edwards N.J.; Bolanos R.; Fasulo D.; Halldorsson B.V.; Hannenhalli S.; Turner R.; Yooseph S.; Lu F.; Nusskern D.R.; Shue B.C.; Zheng X.H.; Zhong F.; Delcher A.L.; Huson D.H.; Kravitz S.A.; Mouchard L.; Reinert K.; Remington K.A.; Clark A.G.; Waterman M.S.; Eichler E.E.; Adams M.D.; Hunkapiller M.W.; Myers E.W.; Venter J.C.;
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]; VARIANT ALA-124;

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]; VARIANT ALA-124;

Submission
Bienvenut W.V.; Boldt K.; von Kriegsheim A.F.; Murray L.; Brunton V.G.; Frame M.C.; Calvo F.; Kolch W.;
Cited for: PROTEIN SEQUENCE OF 2-15; 22-31; 79-88 AND 108-136; VARIANT ALA-124; CLEAVAGE OF INITIATOR METHIONINE; IDENTIFICATION BY MASS SPECTROMETRY;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P37108: Variant p.Pro124Ala