Variant position: 579 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 652 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 KNDVNWSQPGEKKLTGGSNW QPKVAPTTAWNAATM--------APPVMA
Mouse KNDVSWSQPGEKKLTGGSNW QPKVAPTTAWSAATMNGMHFP
Rat KNDVSCSQPGEKKLTGGSNW QPKVAPTTAWSAATM------
Caenorhabditis elegans SAPQPMYTAPMGMYQQPFGA QP------MWNPAMA------
Drosophila K------------YDGGAGS SP-----FDWG----------
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 – 652 Phosphatidylinositol-binding clathrin assembly protein
559 – 580 Disordered
593 – 593 M -> MNGMHFPQY. In isoform 3.
The t(10;11)(p13;q14) in the U937 cell line results in the fusion of the AF10 gene and CALM, encoding a new member of the AP-3 clathrin assembly protein family.
Dreyling M.H.; Martinez-Climent J.A.; Zheng M.; Mao J.; Rowley J.D.; Bohlander S.K.;
Proc. Natl. Acad. Sci. U.S.A. 93:4804-4809(1996)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); CHROMOSOMAL TRANSLOCATION; TISSUE SPECIFICITY; VARIANTS CYS-578 AND GLU-579;
Alternative splicing in wild-type AF10 and CALM cDNAs and in AF10-CALM and CALM-AF10 fusion cDNAs produced by the t(10;11)(p13-14;q14-q21) suggests a potential role for truncated AF10 polypeptides.
Silliman C.C.; McGavran L.; Wei Q.; Miller L.A.; Li S.; Hunger S.P.;
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 575-652 (ISOFORMS 1 AND 2); VARIANTS CYS-578 AND GLU-579;
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.