Variant position: 610 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 663 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 SVGTPVGAPLSPVLDPARSH SSTLSPQVTNLNEWYVCQASG
Mouse SVGTPVGDPLSPVLDPTRSR SSTLSPQVTNLNEWYVCQASG
Xenopus laevis AVGTPLDDPLSPAQEQVRGR SSNLSPQVTNLNEWYVCQATG
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 – 663 Zinc finger protein ZIC 5
600 – 600 Phosphoserine
MAGI2 mutations cause congenital nephrotic syndrome.
Bierzynska A.; Soderquest K.; Dean P.; Colby E.; Rollason R.; Jones C.; Inward C.D.; McCarthy H.J.; Simpson M.A.; Lord G.M.; Williams M.; Welsh G.I.; Koziell A.B.; Saleem M.A.;
J. Am. Soc. Nephrol. 28:1614-1621(2017)
Cited for: VARIANTS 410-PRO--PRO-414 DEL AND PHE-610;
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