Variant position: 792 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 LMTH-SVNQGQNIHRKTTAST RKVSLAPQANLT-ELDIYSRRL
Gorilla LMTH-SVNQGQNIHRKTTAST RKVSLAPQANLT-ELDIYSR
Rhesus macaque LMTH-SVNQGQSIHRKTAAST RKVSLAPQANLT-ELDIYSR
Chimpanzee LMTH-SVNQGQNIHRKTTAST RKVSLAPQANLT-ELDIYSR
Mouse LMTF-TPNSGSSNLQRTRTSI RKISLVPQISLN-EVDVYSR
Rat LMTF-TPSSVSSSLQRTRASI RKISLAPRISLK-EEDIYSR
Pig LMTRSSVNQGQSIHRKTATST RKMSLVPQANLT-EIDIYSR
Bovine LMTGSSVNQGQSIHRKTATST RKMSLAPQASLA-EIDIYSR
Rabbit LMTH-SVSQGPSIYRRTTTSA RKMSLAPQTNLT-EMDIYSR
Sheep LMTCSSVNQGQSIHRKTATST RKMSLAPQASLA-EIDIYSR
Horse LMTRSSVNQGQSIHRKTATST RKMSLAPQANLT-EMDIYSR
Xenopus laevis LMTRTSISQGSNAFATRNASV RKMSVNSYSNSSFDLDIYNR
Zebrafish FMTN-AQGQGRREHLQSSFR- RRLSVVPQSELASELDIYTR
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
654 – 831 Intrinsically disordered R region
790 – 790 Phosphoserine; by PKC
795 – 795 Phosphoserine; by PKA
606 – 1480 Missing. In isoform 3.
Characterization of 19 disease-associated missense mutations in the regulatory domain of the cystic fibrosis transmembrane conductance regulator.
Vankeerberghen A.; Wei L.; Jaspers M.; Cassiman J.-J.; Nilius B.; Cuppens H.;
Hum. Mol. Genet. 7:1761-1769(1998)
Cited for: CHARACTERIZATION OF VARIANTS CF PHE-601; SER-610; THR-613; GLY-614; THR-618; SER-619; GLN-620; PRO-620; ARG-628; PRO-633 AND SER-665; CHARACTERIZATION OF VARIANT OLIGOSPERMIA ASP-622; CHARACTERIZATION OF VARIANTS CBAVD GLY-792 AND GLY-800; CHARACTERIZATION OF VARIANT THORACIC SARCOIDOSIS LYS-828;
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.