Sequence information
Variant position: 417 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 814 The length of the canonical sequence.
Location on the sequence:
IHAVETRGINEQGLYRIVGV
N SRVQKLLSVLMDPKTASETE
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 IHAVETRGINEQGLYRIVGVN SRVQKLLSVLMDPKTASETE
Mouse IHAVETRGINEQGLYRIVGVN SRVQKLLSVLMDPKAASETE
Chicken IHAVETRGINEQGLYRIVGVN SRVQKLLSILMDPKTATETE
Xenopus laevis IQAIETRGINEQGLYRIVGVN SRVQKLLNILMDPKISPETE
Xenopus tropicalis IQAVETRGINEQGLYRIVGVN SRVQKLLNFLMDPKISPETE
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
Chain
1 – 814
Rho GTPase-activating protein 26
Domain
383 – 568
Rho-GAP
Literature citations
The human GRAF gene is fused to MLL in a unique t(5;11)(q31;q23) and both alleles are disrupted in three cases of myelodysplastic syndrome/acute myeloid leukemia with a deletion 5q.
Borkhardt A.; Bojesen S.; Haas O.A.; Fuchs U.; Bartelheimer D.; Loncarevic I.F.; Bohle R.M.; Harbott J.; Repp R.; Jaeger U.; Viehmann S.; Henn T.; Korth P.; Scharr D.; Lampert F.;
Proc. Natl. Acad. Sci. U.S.A. 97:9168-9173(2000)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 2); DISEASE; VARIANT JMML SER-417;
Disclaimer:
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.