UniProtKB/Swiss-Prot Q9BX66: Variant p.Leu61Pro

Sorbin and SH3 domain-containing protein 1
Gene: SORBS1
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Variant information Variant position:

61 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 Leucine (L) to Proline (P) at position 61 (L61P, p.Leu61Pro). 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:

Similar physico-chemical property. Both residues are medium size and hydrophobic. 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
Other resources:

Links to websites of interest for the variant.

Variant rs943542 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

1292 The length of the canonical sequence.
Location on the sequence:

IIPVKTVKNASGLVLPTDMD L TKICTGKGAVTLRASSSYRE 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                         IIPVKTVKNASGLVLPTDMDLTKICTGKGAVTLRASSSYRE

Mouse                         -----------------DMDPTKICTGKGTVTLRASSSYRG

Caenorhabditis elegans        -----YLNPAADAYNFDTFEDSDKFSPKGNVAALRNVIHGQ

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 – 1292	Sorbin and SH3 domain-containing protein 1

Literature citations
Cloning, mapping, and characterization of the human sorbin and SH3 domain containing 1 (SORBS1) gene: a protein associated with c-Abl during insulin signaling in the hepatoma cell line Hep3B.
Lin W.-H.; Huang C.-J.; Liu M.-W.; Chang H.-M.; Chen Y.-J.; Tai T.-Y.; Chuang L.-M.;
Genomics 74:12-20(2001)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1; 2; 3 AND 4); TISSUE SPECIFICITY; INTERACTION WITH ABL1 AND INSULIN RECEPTOR; VARIANT PRO-61; Ataxin-7 interacts with a Cbl-associated protein that it recruits into neuronal intranuclear inclusions.
Lebre A.-S.; Jamot L.; Takahashi J.; Spassky N.; Leprince C.; Ravise N.; Zander C.; Fujigasaki H.; Kussel-Andermann P.; Duyckaerts C.; Camonis J.H.; Brice A.;
Hum. Mol. Genet. 10:1201-1213(2001)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 8); SUBCELLULAR LOCATION; INTERACTION WITH SCA7; VARIANT PRO-61; Molecular scanning of the human sorbin and SH3-domain-containing-1 (SORBS1) gene: positive association of the T228A polymorphism with obesity and type 2 diabetes.
Lin W.-H.; Chiu K.C.; Chang H.-M.; Lee K.C.; Tai T.-Y.; Chuang L.-M.;
Hum. Mol. Genet. 10:1753-1760(2001)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 5); VARIANTS PRO-61; TRP-74 AND ALA-237; The c-Cbl-associated protein and c-Cbl are two new partners of the SH2-containing inositol polyphosphate 5-phosphatase SHIP2.
Vandenbroere I.; Paternotte N.; Dumont J.E.; Erneux C.; Pirson I.;
Biochem. Biophys. Res. Commun. 300:494-500(2003)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 6); INTERACTION WITH INPPL1; VARIANT PRO-61; Paxillin and ponsin interact in nascent costameres of muscle cells.
Gehmlich K.; Pinotsis N.; Hayess K.; van der Ven P.F.; Milting H.; El Banayosy A.; Korfer R.; Wilmanns M.; Ehler E.; Furst D.O.;
J. Mol. Biol. 369:665-682(2007)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 11); INTERACTION WITH PXN; X-RAY CRYSTALLOGRAPHY (0.83 ANGSTROMS) OF 870-930 IN COMPLEX WITH PXN PEPTIDE; SUBCELLULAR LOCATION; TISSUE SPECIFICITY; VARIANT PRO-61; Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro.
Nagase T.; Kikuno R.; Ishikawa K.; Hirosawa M.; Ohara O.;
DNA Res. 7:65-73(2000)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 9); VARIANT PRO-61; Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs.
Wiemann S.; Weil B.; Wellenreuther R.; Gassenhuber J.; Glassl S.; Ansorge W.; Boecher M.; Bloecker H.; Bauersachs S.; Blum H.; Lauber J.; Duesterhoeft A.; Beyer A.; Koehrer K.; Strack N.; Mewes H.-W.; Ottenwaelder B.; Obermaier B.; Tampe J.; Heubner D.; Wambutt R.; Korn B.; Klein M.; Poustka A.;
Genome Res. 11:422-435(2001)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 10); VARIANT PRO-61; 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] (ISOFORMS 7 AND 9); VARIANT PRO-61;

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.