Variant position: 480 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1560 The length of the canonical sequence.
Location on the sequence:
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 RHLTPEEEEYATSGWNLNVM PVLEQSVLCHINADISGMKVP
Mouse RHLTPEEEEYATSGWNLNVM PVLEQSVLCHINADISGMKVP
Pig RHLTPEEEEYATSGWNLNVM PVLEQSVLCHINADISGMKVP
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.
Multilocus loss of DNA methylation in individuals with mutations in the histone H3 lysine 4 demethylase KDM5C.
Grafodatskaya D.; Chung B.H.; Butcher D.T.; Turinsky A.L.; Goodman S.J.; Choufani S.; Chen Y.A.; Lou Y.; Zhao C.; Rajendram R.; Abidi F.E.; Skinner C.; Stavropoulos J.; Bondy C.A.; Hamilton J.; Wodak S.; Scherer S.W.; Schwartz C.E.; Weksberg R.;
BMC Med. Genomics 6:1-1(2013)
Cited for: VARIANT MRXSCJ LEU-480;
Mutations in the intellectual disability gene KDM5C reduce protein stability and demethylase activity.
Brookes E.; Laurent B.; Ounap K.; Carroll R.; Moeschler J.B.; Field M.; Schwartz C.E.; Gecz J.; Shi Y.;
Hum. Mol. Genet. 24:2861-2872(2015)
Cited for: CHARACTERIZATION OF VARIANTS MRXSCJ TYR-402 AND LEU-480;
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