Variant position: 694 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 723 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 ECVVCLEREAQMIFLNCGHV CCCQQCCQPLRTCPLCRQDIA
Mouse ECVVCLEREAQMVFLTCGHV CCCQQCCQPLRTCPLCRQEIS
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
1 – 723 E3 ubiquitin-protein ligase LRSAM1
675 – 710 RING-type
675 – 675 C -> A. Abolishes ubiquitination of TSG101.
692 – 692 H -> A. Abolishes ubiquitination of TSG101.
Charcot-Marie-Tooth disease type 2G redefined by a novel mutation in LRSAM1.
Peeters K.; Palaima P.; Pelayo-Negro A.L.; Garcia A.; Gallardo E.; Garcia-Barredo R.; Mateiu L.; Baets J.; Menten B.; De Vriendt E.; De Jonghe P.; Timmerman V.; Infante J.; Berciano J.; Jordanova A.;
Ann. Neurol. 80:823-833(2016)
Cited for: VARIANT CMT2P TYR-694; CHARACTERIZATION OF VARIANT CMT2P TYR-694;
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