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UniProtKB/Swiss-Prot Q9UPQ0: Variant p.Met759Thr

LIM and calponin homology domains-containing protein 1
Gene: LIMCH1
Variant information

Variant position:  759
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 Methionine (M) to Threonine (T) at position 759 (M759T, p.Met759Thr).
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 (M) to medium size and polar (T)
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.



Sequence information

Variant position:  759
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  1083
The length of the canonical sequence.

Location on the sequence:   LHLPNLNSQVDSPSSEKSPV  M TPQFKFWAWDPEEERRRQEK
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                         LHLPNLN----------------SQVDSPSSEKSPVMTPQF----KFWAWDPEEERRRQEK

Mouse                         LHLPNPS----------------SQADSPSSEKSPGSTP-F

Xenopus laevis                SHKVQLNITLQTRNAWRRSQFFLQSVDTECTEKSPALVPNL

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.

TypePositionsDescription
Chain 1 – 1083 LIM and calponin homology domains-containing protein 1
Modified residue 750 – 750 Phosphoserine
Modified residue 756 – 756 Phosphoserine
Alternative sequence 298 – 1083 Missing. In isoform 7.
Alternative sequence 747 – 747 Q -> QESPGTASVPLRVQNSWRRSQFFSQS. In isoform 4 and isoform 5.
Alternative sequence 762 – 762 Missing. In isoform 3, isoform 4, isoform 5, isoform 6, isoform 8, isoform 9 and isoform 10.


Literature citations

Prediction of the coding sequences of unidentified human genes. XIV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.
Kikuno R.; Nagase T.; Ishikawa K.; Hirosawa M.; Miyajima N.; Tanaka A.; Kotani H.; Nomura N.; Ohara O.;
DNA Res. 6:197-205(1999)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1); VARIANT THR-759;

The full-ORF clone resource of the German cDNA consortium.
Bechtel S.; Rosenfelder H.; Duda A.; Schmidt C.P.; Ernst U.; Wellenreuther R.; Mehrle A.; Schuster C.; Bahr A.; Bloecker H.; Heubner D.; Hoerlein A.; Michel G.; Wedler H.; Koehrer K.; Ottenwaelder B.; Poustka A.; Wiemann S.; Schupp I.;
BMC Genomics 8:399-399(2007)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2; 3; 4; 5; 6; 9 AND 10); VARIANT THR-759;

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 8); VARIANT THR-759;

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.