Variant position: 562 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1480 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 GEGGITLSGGQRARISLARA VYKDADLYLLDSPFGYLDVLT
Gorilla GEGGITLSGGQRARISLARA VYKDADLYLLDSPFGYLDVLT
Rhesus macaque GEGGITLSGGQRARISLARA VYKDADLYLLDSPFGYLDVLT
Chimpanzee GEGGITLSGGQRARISLARA VYKDADLYLLDSPFGYLDVLT
Mouse GEGGVTLSGGQRARISLARA VYKDADLYLLDSPFGYLDVFT
Rat GEGGVTLSGGQRARISLARA VYKDADLYLLDSPFGYLDVLT
Pig GEGGITLSGGQRARISLARA VYKDADLYLLDSPFGYLDVLT
Bovine GEGGITLSGGQRARISLARA VYKDADLYLLDSPFGYLDVLT
Rabbit GEGGITLSGGQRARISLARA VYKDADLYLLDSPFGYLDVLT
Sheep GEGGITLSGGQRARISLARA VYKDADLYLLDSPFGYLDVLT
Horse GEGGIQLSGGQRARISLARA VYKDADLYLLDSPFGYLDVLT
Xenopus laevis GEGGITLSGGQRARISLARA VYKDADLYLLDSPFSYLDLFT
Zebrafish AEGGLNLSGGQKARVALARA VYRDADLYLLDAPFTHLDIAT
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 – 1480 Cystic fibrosis transmembrane conductance regulator
359 – 858 Cytoplasmic
423 – 646 ABC transporter 1
549 – 549 Phosphoserine
550 – 563
Mutation characterization of CFTR gene in 206 Northern Irish CF families: thirty mutations, including two novel, account for approximately 94% of CF chromosomes.
Hughes D.J.; Hill A.J.M.; Macek M. Jr.; Redmond A.O.; Nevin N.C.; Graham C.A.;
Hum. Mutat. 8:340-347(1996)
Cited for: VARIANT CF LEU-562;
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.