Variant position: 556 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 780 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 YKNIEEPQGVKILRFSSPIF YGNVDGFKKCIKSTVGFDAIR
Mouse YKNLEEPEGVKILRFSSPIF YGNVDGFKKCINSTVGFDAIR
Rat YKNLEEPEGVKILRFSSPIF YGNVDGFKKCVKSTVGFDAIR
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.
Molecular analysis of the PDS gene in Pendred syndrome (sensorineural hearing loss and goitre).
Coyle B.; Reardon W.; Herbrick J.-A.; Tsui L.-C.; Gausden E.; Lee J.; Coffey R.; Grueters A.; Grossman A.; Phelps P.D.; Luxon L.; Kendall-Taylor P.; Scherer S.W.; Trembath R.C.;
Hum. Mol. Genet. 7:1105-1112(1998)
Cited for: VARIANTS PDS PHE-138; PRO-236; GLY-384; HIS-409; MET-410; PRO-416; HIS-530; CYS-556 AND GLU-672;
Mutations of the PDS gene, encoding pendrin, are associated with protein mislocalization and loss of iodide efflux: implications for thyroid dysfunction in Pendred syndrome.
Taylor J.P.; Metcalfe R.A.; Watson P.F.; Weetman A.P.; Trembath R.C.;
J. Clin. Endocrinol. Metab. 87:1778-1784(2002)
Cited for: CHARACTERIZATION OF VARIANTS PDS ARG-102; PHE-117; PHE-138; VAL-209; PRO-236; MET-410; ARG-446; CYS-556 AND GLU-672;
Pendred syndrome and DFNB4-mutation screening of SLC26A4 by denaturing high-performance liquid chromatography and the identification of eleven novel mutations.
Prasad S.; Koelln K.A.; Cucci R.A.; Trembath R.C.; Van Camp G.; Smith R.J.H.;
Am. J. Med. Genet. A 124:1-9(2004)
Cited for: VARIANTS PDS/DFNB4 GLY-24; GLN-29; CYS-78; VAL-104; CYS-105; ASP-106; PHE-138; ALA-139; VAL-209; PRO-236; HIS-271; LEU-335; GLY-384; HIS-409; MET-410; PRO-416; ARG-421; ALA-429 DEL; TRP-445; ASP-480; HIS-530; CYS-556; TYR-565; ALA-653; GLU-672; SER-683 AND ARG-723; VARIANTS TYR-324 AND SER-597;
Molecular Analysis of Twelve Pakistani Families with Nonsyndromic or Syndromic Hearing Loss.
Wang R.; Han S.; Khan A.; Zhang X.;
Genet. Test. Mol. Biomarkers 21:316-321(2017)
Cited for: VARIANTS DFNB4 PRO-227 AND CYS-556;
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.