Variant position: 1019 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1173 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 APEFRRPKNIHLRNFYIIVP PLTLNFVEHSISCKEKLNKKN
Mouse APEFRRPKNIHLRNFYIIVP PLTLNFVEHSISCKEKLNKKN
Drosophila QPFLCNPHNHHLRTFYLITP ALIMNYIDYRVKQKLKIYKKD
Slime mold ATEFRNIANQHLKNFYIIVP ALASNYIDHMINSKDKLFKKS
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
2 – 1173 WASH complex subunit 4
705 – 1173 Sufficient for interaction with WASHC5
852 – 1173 Missing. In isoform 2.
Identification of a novel candidate gene for non-syndromic autosomal recessive intellectual disability: the WASH complex member SWIP.
Ropers F.; Derivery E.; Hu H.; Garshasbi M.; Karbasiyan M.; Herold M.; Nurnberg G.; Ullmann R.; Gautreau A.; Sperling K.; Varon R.; Rajab A.;
Hum. Mol. Genet. 20:2585-2590(2011)
Cited for: FUNCTION; IDENTIFICATION IN THE WASH COMPLEX; INVOLVEMENT IN MRT43; VARIANT MRT43 ARG-1019; CHARACTERIZATION OF VARIANT MRT43 ARG-1019;
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.