Sequence information
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:
KQLESEGRSPIFTHLVTSLK
G LWTLRAFGRQPYFETLFHKA
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 KQLESEGRSPIFTHLVTSLKG LWTLRAFGRQPYFETLFHKA
Gorilla KQLESEGRSPIFTHLVTSLKG LWTLRAFGRQPYFETLFHKA
KQLESEGRSPIFTHLLTSLKG LWTLRAFGRQPYFETLFHKA
Rhesus macaque KQLESEGRSPIFTHLVTSLKG LWTLRAFGRQPYFETLFHKA
Chimpanzee KQLESEGRSPIFTHLVTSLKG LWTLRAFGRQPYFETLFHKA
Mouse KQLESEGRSPIFTHLVTSLKG LWTLRAFRRQTYFETLFHKA
Rat KQLESEGRSPIFTHLVTSLKG LWTLRAFRRQTYFETLFHKA
Pig KQLESEGRSPIFTHLITSLKG LWTLRAFGRQPYFETLFHKA
Bovine KQLESEGRSPIFTHLVTSLKG LWTLRAFGRQPYFETLFHKA
Rabbit KQLESEGRSPIFTHLVTSLKG LWTLRAFGRQPYFETLFHKA
Sheep KQLESEGRSPIFTHLVTSLKG LWTLRAFGRQPYFETLFHKA
Horse KQLESEGRSPIFTHLVTSLKG LWTLRAFGRQPYFETLFHKA
Xenopus laevis KQLESKARSPIFAHLITSLKG LWTLRAFGRQPYFETLFHKA
Zebrafish KQLETEARSPIFSHLIMSLKG LWTIRAFERQAYFEALFHKT
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 – 1480
Cystic fibrosis transmembrane conductance regulator
Topological domain
1035 – 1095
Cytoplasmic
Domain
859 – 1155
ABC transmembrane type-1 2
Alternative sequence
606 – 1480
Missing. In isoform 3.
Literature citations
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.;
Genomics 16:296-297(1993)
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;
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.