UniProtKB/Swiss-Prot O43511: Variant p.Leu597Ser

Pendrin
Gene: SLC26A4
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Variant information Variant position:

597 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

US The variants are classified into three categories: LP/P, LB/B and US.

LP/P: likely pathogenic or pathogenic.
LB/B: likely benign or benign.
US: uncertain significance

Residue change:

From Leucine (L) to Serine (S) at position 597 (L597S, p.Leu597Ser). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties:

Change from medium size and hydrophobic (L) to small size and polar (S) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

-2 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:

Lowest score: -4 (low probability of substitution).
Highest score: 11 (high probability of substitution).

More information can be found on the following page
Variant description:

Found in a patient with hearing loss and unilateral enlargement of the vestibular aqueduct; uncertain significance. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs55638457 [ dbSNP | Ensembl ]

Sequence information Variant position:

597 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:

VYNKRLKALRKIQKLIKSGQ L RATKNGIISDAVSTNNAFEP 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                         VYNKRLKALRKIQKLIKSGQLRATKNGIISDAVSTNNAFEP

Mouse                         VYNKRLKALRRIQKLIKKGQLRATKNGIISDIGSSNNAFEP

Rat                           VYNKRLKALRRIQKLIKKGQLRATKNGIISDVGSSNNAFEP

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 – 780	Pendrin
Topological domain	508 – 780	Cytoplasmic
Domain	535 – 729	STAS

Literature citations
Pendred syndrome, DFNB4, and PDS/SLC26A4 identification of eight novel mutations and possible genotype-phenotype correlations.
Campbell C.; Cucci R.A.; Prasad S.; Green G.E.; Edeal J.B.; Galer C.E.; Karniski L.P.; Sheffield V.C.; Smith R.J.H.;
Hum. Mutat. 17:403-411(2001)
Cited for: VARIANTS PDS GLN-29; CYS-105; ASP-106; PHE-138; VAL-209; PRO-236; LEU-335; PRO-416; ASP-480; HIS-530; ALA-653 AND GLU-672; VARIANT SER-597; Differential diagnosis between Pendred and pseudo-Pendred syndromes: clinical, radiologic, and molecular studies.
Fugazzola L.; Cerutti N.; Mannavola D.; Crino A.; Cassio A.; Gasparoni P.; Vannucchi G.; Beck-Peccoz P.;
Pediatr. Res. 51:479-484(2002)
Cited for: VARIANTS PDS ARG-28; THR-133; HIS-409 AND MET-410; VARIANT SER-597; 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; Screening of SLC26A4 (PDS) gene in Pendred's syndrome: a large spectrum of mutations in France and phenotypic heterogeneity.
Blons H.; Feldmann D.; Duval V.; Messaz O.; Denoyelle F.; Loundon N.; Sergout-Allaoui A.; Houang M.; Duriez F.; Lacombe D.; Delobel B.; Leman J.; Catros H.; Journel H.; Drouin-Garraud V.; Obstoy M.-F.; Toutain A.; Oden S.; Toublanc J.E.; Couderc R.; Petit C.; Garabedian E.-N.; Marlin S.;
Clin. Genet. 66:333-340(2004)
Cited for: VARIANTS PDS GLN-29; CYS-78; PRO-137; PHE-138; ILE-193; VAL-209; PRO-236; ASN-391; HIS-409; MET-410; PRO-416; TRP-445; HIS-530; ILE-552; PRO-694; MET-721 AND ASN-724; VARIANT SER-597; Hypo-functional SLC26A4 variants associated with nonsyndromic hearing loss and enlargement of the vestibular aqueduct: genotype-phenotype correlation or coincidental polymorphisms?
Choi B.Y.; Stewart A.K.; Madeo A.C.; Pryor S.P.; Lenhard S.; Kittles R.; Eisenman D.; Kim H.J.; Niparko J.; Thomsen J.; Arnos K.S.; Nance W.E.; King K.A.; Zalewski C.K.; Brewer C.C.; Shawker T.; Reynolds J.C.; Butman J.A.; Karniski L.P.; Alper S.L.; Griffith A.J.;
Hum. Mutat. 30:599-608(2009)
Cited for: VARIANTS PDS PHE-138; VAL-209; PRO-236; GLY-384; MET-402; PRO-416; TRP-445; ARG-514; HIS-530; TYR-565 AND THR-775; VARIANTS DFNB4 LEU-335; MET-402; SER-530 AND THR-775; VARIANTS SER-597; GLY-609 AND CYS-776; Spectrum and frequency of SLC26A4 mutations among Czech patients with early hearing loss with and without enlarged vestibular aqueduct (EVA).
Pourova R.; Janousek P.; Jurovcik M.; Dvorakova M.; Malikova M.; Raskova D.; Bendova O.; Leonardi E.; Murgia A.; Kabelka Z.; Astl J.; Seeman P.;
Ann. Hum. Genet. 74:299-307(2010)
Cited for: VARIANT DFNB4 ILE-281; VARIANTS VAL-6; ALA-144; THR-185 AND SER-597; Use of SLC26A4 mutation testing for unilateral enlargement of the vestibular aqueduct.
Chattaraj P.; Reimold F.R.; Muskett J.A.; Shmukler B.E.; Chien W.W.; Madeo A.C.; Pryor S.P.; Zalewski C.K.; Butman J.A.; Brewer C.C.; Kenna M.A.; Alper S.L.; Griffith A.J.;
JAMA Otolaryngol. Head Neck Surg. 139:907-913(2013)
Cited for: VARIANTS DFNB4 THR-185; LEU-335 AND THR-775; VARIANTS LEU-335; GLY-384; TRP-445; SER-597 AND CYS-776; CHARACTERIZATION OF VARIANT DFNB4 THR-185; FUNCTION; TRANSPORTER ACTIVITY; SUBCELLULAR LOCATION;

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.