Sequence information
Variant position: 556 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 815 The length of the canonical sequence.
Location on the sequence:
TPITQGHTDELWGLAIHASK
S QFLTCGHDKHATLWDAVGHR
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 TPITQGHTDELWGLAIHASKS QFLTCGHDKHATLWDAVGHR
Mouse TPITQGHTDELWGLAIHASKP QFLTCGHDKHATLWDAVGHR
Rat TPITQGHTDELWGLAIHASKP QFLTCGHDKHATLWDAVGHR
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 – 815
Echinoderm microtubule-associated protein-like 1
Repeat
535 – 572
WD 7
Region
176 – 815
Tandem atypical propeller in EMLs
Mutagenesis
547 – 547
W -> A. Abolishes tubulin binding; when associated with S-192; S-194; T-626; S-627; A-646 and A-786.
Beta strand
553 – 562
Literature citations
Isolation of a novel human homologue of the gene coding for echinoderm microtubule-associated protein (EMAP) from the Usher syndrome type 1a locus at 14q32.
Eudy J.D.; Ma-Edmonds M.; Yao S.F.; Talmadge C.B.; Kelley P.M.; Weston M.D.; Kimberling W.J.; Sumegi J.;
Genomics 43:104-106(1997)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANT PRO-556;
Complete exon-intron structure of human homologue of the gene coding the echinoderm microtubule-associated protein (EMAP).
Gerber S.; Sumegi J.; Rozet J.-M.; Perrault I.; Ducroq D.; Munnich A.; Kaplan J.;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANT PRO-556;
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
The MGC Project Team;
Genome Res. 14:2121-2127(2004)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1); VARIANTS ASN-552 AND PRO-556;
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.