UniProtKB/Swiss-Prot O75689: Variant p.Gly241Ser

• Variant information
• Sequence information
• Literature citations
• All

Variant information

Variant position: 241 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 Serine (S) at position 241 (G241S, p.Gly241Ser). 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 polar (S) 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 rs10256887 [ dbSNP | Ensembl ]

Sequence information

Variant position: 241 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 374 The length of the canonical sequence.
Location on the sequence: WFNALRAARFHYLQVAFPGA G DADLVPKLSRNYLKEGYMEK 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.
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 – 374	Arf-GAP with dual PH domain-containing protein 1

Literature citations

Identification of centaurin-alpha1 as a potential in vivo phosphatidylinositol 3,4,5-trisphosphate-binding protein that is functionally homologous to the yeast ADP-ribosylation factor (ARF) GTPase-activating protein, Gcs1.
Venkateswarlu K.; Oatey P.B.; Tavare J.M.; Jackson T.R.; Cullen P.J.;
Biochem. J. 340:359-363(1999)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); FUNCTION; SUBCELLULAR LOCATION; MUTAGENESIS OF CYS-21; CYS-24; ARG-149 AND ARG-273; VARIANT SER-241; Molecular identification of a high-affinity Ins(1,3,4,5)tetrakisphosphate/phosphatidylinositol(3,4, 5)trisphosphate binding protein from human brain, p42IP4.
Horstmeyer A.; Reiser G.;
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANT SER-241; Large-scale identification and characterization of human genes that activate NF-kappaB and MAPK signaling pathways.
Matsuda A.; Suzuki Y.; Honda G.; Muramatsu S.; Matsuzaki O.; Nagano Y.; Doi T.; Shimotohno K.; Harada T.; Nishida E.; Hayashi H.; Sugano S.;
Oncogene 22:3307-3318(2003)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1); VARIANT SER-241; 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); VARIANT SER-241;