Variant position: 544 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 CQLEEDISKFAEKDNIVLGE GGITLSGGQRARISLARAVYK
Gorilla CQLEEDISKFAEKDNIVLGE GGITLSGGQRARISLARAVYK
Rhesus macaque CQLEEDISKFAEKDNIVLGE GGITLSGGQRARISLARAVYK
Chimpanzee CQLEEDISKFAEKDNIVLGE GGITLSGGQRARISLARAVYK
Mouse CQLQQDITKFAEQDNTVLGE GGVTLSGGQRARISLARAVYK
Rat CQLQEDITKFAEQDNTVLGE GGVTLSGGQRARISLARAVYK
Pig CQLEEDISKFAEKDNIVLGE GGITLSGGQRARISLARAVYK
Bovine CQLEEDISKFAEKDNVVLGE GGITLSGGQRARISLARAVYK
Rabbit CQLEEDISKFTEKDNTVLGE GGITLSGGQRARISLARAVYK
Sheep CQLEEDISKFSEKDNIVLGE GGITLSGGQRARISLARAVYK
Horse CQLEEDISKFAEKDNIVLGE GGIQLSGGQRARISLARAVYK
Xenopus laevis CQLEEDISKFPEKDNTVLGE GGITLSGGQRARISLARAVYK
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
423 – 646 ABC transporter 1
549 – 549 Phosphoserine
524 – 524 S-palmitoyl cysteine
539 – 539 I -> T. Enhances trafficking from the endoplasmic reticulum to the cell membrane.
Genetic findings in congenital bilateral aplasia of vas deferens patients and identification of six novel mutations.
de Meeus A.; Guittard C.; Desgeorges M.; Carles S.; Demaille J.; Claustres M.;
Cited for: VARIANTS CBAVD LEU-111; LYS-244; VAL-544 AND VAL-1364;
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.