Variant position: 1101 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 ALNLHTANWFLYLSTLRWFQ MRIEMIFVIFFIAVTFISILT
Gorilla ALNLHTANWFLYLSTLRWFQ MRIEMIFVIFFIAVTFISILT
Rhesus macaque ALNLHTANWFLYLSTLRWFQ MRIEMIFVIFFIAVTFISILT
Chimpanzee ALNLHTANWFLYLSTLRWFQ MRIEMIFVIFFIAVTFISILT
Mouse ALNLHTANWFMYLATLRWFQ MRIDMIFVLFFIVVTFISILT
Rat ALNLHTANWFMYLATLRWFQ MRIDMIFVLFFIVVTFISILT
Pig ALNLHTANWFLYLSTLRWFQ MRIEMIFVIFFIAVTFISILT
Bovine ALNLHTANWFLYLSTLRWFQ MRIEMIFVIFFIAVTFISILT
Rabbit ALNLHTANWFLYLSTLRWFQ MRIEMIFVLFFIAVAFISILT
Sheep ALNLHTANWFLYLSTLRWFQ MRIEMIFVIFFIAVTFISILT
Horse ALNLHTANWFLYLSTLRWFQ MRIEMIFVIFFIAVTFISILT
Xenopus laevis ALNLHTANWFLYLSTLRWFQ MTIEMIFVIFFIAVSFISIAT
Zebrafish TLNTHTATWFLYLSTLRWFL FRADILFVFFFTLAAWIAVGT
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
1096 – 1116 Helical; Name=11
859 – 1155 ABC transmembrane type-1 2
606 – 1480 Missing. In isoform 3.
1071 – 1120
Identification of the M1101K mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene and complete detection of cystic fibrosis mutations in the Hutterite population.
Zielenski J.; Fugiwara T.M.; Markiewicz D.; Paradis A.J.; Anacleto A.I.; Richards B.; Schwartz R.H.; Klinger K.W.; Tsui L.-C.; Morgan K.;
Am. J. Hum. Genet. 52:609-615(1993)
Cited for: VARIANT CF LYS-1101;
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