Variant position: 6628 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 7388 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 YDTTIRTGRALKEKTLLPED SQKLDNFLGEVRDKWDTVCGK
Mouse YDTTIRTGRALKEKTLLAGD TQKLDNLLGEVRDKWDTVCGK
Rat YDTTIRTGRALKEKTLLADD AQKLDNLLGEVRDKWDTVCGK
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 – 7388 Microtubule-actin cross-linking factor 1, isoforms 1/2/3/5
6552 – 6658 Spectrin 15
Molecular cloning and characterization of human trabeculin-alpha, a giant protein defining a new family of actin-binding proteins.
Sun Y.; Zhang J.; Kraeft S.-K.; Auclair D.; Chang M.-S.; Liu Y.; Sutherland R.; Salgia R.; Griffin J.D.; Ferland L.H.; Chen L.B.;
J. Biol. Chem. 274:33522-33530(1999)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3); VARIANTS VAL-4357 AND THR-6628;
MACF1 gene structure: a hybrid of plectin and dystrophin.
Gong T.-W.L.; Besirli C.G.; Lomax M.I.;
Mamm. Genome 12:852-861(2001)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 4); NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 182-6770 (ISOFORM 1); ALTERNATIVE SPLICING; TISSUE SPECIFICITY; VARIANT THR-6628;
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.