Variant position: 358 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 428 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 VVCANGLRPLDEELIRIAER CKNLSAIGLGECEVSCSAFVE
Mouse VVCANGLRPLDEELIRIAER CKNLSAIGLGECEVSCSAFVE
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 – 428 F-box/LRR-repeat protein 3
343 – 368 LRR 6
358 – 358 C -> A. Loss of binding with CRY1.
358 – 358 C -> S. Decrease in binding efficiency with CRY2 and of CRY2 ubiquitination efficiency, loss of binding with CRY1.
Biallelic variants in FBXL3 cause intellectual disability, delayed motor development and short stature.
Ansar M.; Paracha S.A.; Serretti A.; Sarwar M.T.; Khan J.; Ranza E.; Falconnet E.; Iwaszkiewicz J.; Shah S.F.; Qaisar A.A.; Santoni F.A.; Zoete V.; Megarbane A.; Ahmed J.; Colombo R.; Makrythanasis P.; Antonarakis S.E.;
Hum. Mol. Genet. 28:972-979(2019)
Cited for: INVOLVEMENT IN IDDSFAS; VARIANTS IDDSFAS 149-ARG--TRP-428 DEL AND ARG-358;
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