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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q8WY64: Variant p.Asn342Ser

E3 ubiquitin-protein ligase MYLIP
Gene: MYLIP
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Variant information Variant position: help 342 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help 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: help From Asparagine (N) to Serine (S) at position 342 (N342S, p.Asn342Ser). 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: help Change from medium size and polar (N) to small size and polar (S) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 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: help Links to websites of interest for the variant.


Sequence information Variant position: help 342 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 445 The length of the canonical sequence.
Location on the sequence: help VYDHARRALYNAGVVDLVSR N NQSPSHSPLKSSESSMNCSS 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: help 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 – 445 E3 ubiquitin-protein ligase MYLIP
Binding site 360 – 360
Alternative sequence 316 – 445 Missing. In isoform 2.



Literature citations
MIR is a novel ERM-like protein that interacts with myosin regulatory light chain and inhibits neurite outgrowth.
Olsson P.-A.; Korhonen L.; Mercer E.A.; Lindholm D.;
J. Biol. Chem. 274:36288-36292(1999)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); TISSUE SPECIFICITY; DEVELOPMENTAL STAGE; FUNCTION; INTERACTION WITH MYOSIN REGULATORY LIGHT CHAIN (MRLC); VARIANT SER-342; Submission
Shi W.; Mullersman J.E.;
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANT SER-342; Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells.
Zhang Q.-H.; Ye M.; Wu X.-Y.; Ren S.-X.; Zhao M.; Zhao C.-J.; Fu G.; Shen Y.; Fan H.-Y.; Lu G.; Zhong M.; Xu X.-R.; Han Z.-G.; Zhang J.-W.; Tao J.; Huang Q.-H.; Zhou J.; Hu G.-X.; Gu J.; Chen S.-J.; Chen Z.;
Genome Res. 10:1546-1560(2000)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2); VARIANT SER-342; Large-scale cDNA transfection screening for genes related to cancer development and progression.
Wan D.; Gong Y.; Qin W.; Zhang P.; Li J.; Wei L.; Zhou X.; Li H.; Qiu X.; Zhong F.; He L.; Yu J.; Yao G.; Jiang H.; Qian L.; Yu Y.; Shu H.; Chen X.; Xu H.; Guo M.; Pan Z.; Chen Y.; Ge C.; Yang S.; Gu J.;
Proc. Natl. Acad. Sci. U.S.A. 101:15724-15729(2004)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1); VARIANT SER-342;
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.