Variant position: 665 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 MGCDSFDQFSAERRNSILTE TLHRFSLEGDAPVSWTETKKQ
Gorilla MGCDSFDQFSAERRNSILTE TLRRFSLEGDAPVSWTETKKQ
Rhesus macaque MGYDSFDQFSAERRNSILTE TLRRFSLEGDAPVSWTETKKQ
Chimpanzee MGCDSFDQFSAERRNSILTE TLRRFSLEGDAPVSWTETKKQ
Mouse MGYDTFDQFTEERRSSILTE TLRRFSVD-DSSAPWSKPKQS
Rat MGYDTFDQFTEERRSSILTE TLRRFSVD-DASTTWNKAKQS
Pig MGYDTFDQFTAERRNSIITE TLRRFSLEGDASVSWNETKKQ
Bovine MGCDTFDQFTAERRNSIITE TLRRFSLEGDTSVSWNETKKP
Rabbit MGYDSFDQFSAERRNSILTE TLRRFSLEGDASISWNDTRKQ
Sheep MGCDTFDQFTAERRNSIITE TLRRFSLEGDTSVSWNETKKP
Horse MGYDSFDQFSAERRNSILTE TLRRFSLEGDATVSWNETKKQ
Xenopus laevis IG---FDHFNAERRNSIITE TLRRCSIDSDPSAVRNEVKNK
Zebrafish LGLEAYDNISAERRCSILTE TLHRVSVDESAGM---QPERS
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
660 – 660 Phosphoserine; by PKA
670 – 670 Phosphoserine; by PKA
606 – 1480 Missing. In isoform 3.
655 – 669
Distribution of CFTR mutations in cystic fibrosis patients of Tunisian origin: identification of two novel mutations.
Messaoud T.; Verlingue C.; Denamur E.; Pascaud O.; Quere I.; Fattoum S.; Elion J.; Ferec C.;
Eur. J. Hum. Genet. 4:20-24(1996)
Cited for: VARIANT CF SER-665;
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 VARIANTS CBAVD ASP-622; 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.