Sequence information
Variant position: 1568 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 2419 The length of the canonical sequence.
Location on the sequence:
VDGRSEQVHGVINLGNSLIE
C SACDGNEEAMKEQLEQLKEH
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 VDGRSEQVHGVINLGNSLIEC SACDGNEEAMKEQLEQLKEH
Mouse VNGRAEQVDGVINLGNSLIER RVCDGDEENMQEQLDKLKEN
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 – 2419
Spectrin alpha chain, erythrocytic 1
Repeat
1501 – 1605
Spectrin 14
Literature citations
The complete cDNA and polypeptide sequences of human erythroid alpha-spectrin.
Sahr K.E.; Laurila P.; Kotula L.; Scarpa A.L.; Coupal E.; Leto T.L.; Linnenbach A.J.; Winkelmann J.C.; Speicher D.W.; Marchesi V.T.; Curtis P.J.; Forget B.G.;
J. Biol. Chem. 265:4434-4443(1990)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 1); VARIANTS ALA-1163 AND ARG-1568;
Sequence comparison of human and murine erythrocyte alpha-spectrin cDNA.
Curtis P.J.; Palumbo A.; Ming J.; Fraser P.J.; Cioe L.; Meo P.; Shane S.; Rovera G.;
Gene 36:357-362(1985)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1451-1688; VARIANT ARG-1568;
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.