Variant position: 1061 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 KQLESEGRSPIFTHLVTSLK GLWTLRAFGRQPYFETLFHKA
Gorilla KQLESEGRSPIFTHLVTSLK GLWTLRAFGRQPYFETLFHKA
Rhesus macaque KQLESEGRSPIFTHLVTSLK GLWTLRAFGRQPYFETLFHKA
Chimpanzee KQLESEGRSPIFTHLVTSLK GLWTLRAFGRQPYFETLFHKA
Mouse KQLESEGRSPIFTHLVTSLK GLWTLRAFRRQTYFETLFHKA
Rat KQLESEGRSPIFTHLVTSLK GLWTLRAFRRQTYFETLFHKA
Pig KQLESEGRSPIFTHLITSLK GLWTLRAFGRQPYFETLFHKA
Bovine KQLESEGRSPIFTHLVTSLK GLWTLRAFGRQPYFETLFHKA
Rabbit KQLESEGRSPIFTHLVTSLK GLWTLRAFGRQPYFETLFHKA
Sheep KQLESEGRSPIFTHLVTSLK GLWTLRAFGRQPYFETLFHKA
Horse KQLESEGRSPIFTHLVTSLK GLWTLRAFGRQPYFETLFHKA
Xenopus laevis KQLESKARSPIFAHLITSLK GLWTLRAFGRQPYFETLFHKA
Zebrafish KQLETEARSPIFSHLIMSLK GLWTIRAFERQAYFEALFHKT
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
1035 – 1095 Cytoplasmic
859 – 1155 ABC transmembrane type-1 2
606 – 1480 Missing. In isoform 3.
Identification of eight novel mutations in a collaborative analysis of a part of the second transmembrane domain of the CFTR gene.
Mercier B.; Lissens W.; Novelli G.; Kalaydjieva L.; De Arce M.; Kapranov N.; Klain N.C.; Lenoir G.; Chauveau P.; Lenaerts C.; Rault G.; Cashman S.; Sangiuolo F.; Audrezet M.-P.; Dallapiccola B.; Guillermit H.; Bonduelle M.; Liebaers I.; Quere I.; Verlingue C.; Ferec C.;
Cited for: VARIANTS CF VAL-1052; ARG-1061; LEU-1066; GLN-1070; ARG-1085 AND ARG-1101;
Identification of three novel mutations in the cystic fibrosis transmembrane conductance regulator gene in Argentinian CF patients.
Bienvenu T.; Chertkoff L.; Beldjord C.; Segal E.; Carniglia L.; Barreiro C.; Kaplan J.-C.;
Hum. Mutat. 7:376-377(1996)
Cited for: VARIANT CF ARG-1061;
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