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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O60663: Variant p.Arg246Gln

LIM homeobox transcription factor 1-beta
Gene: LMX1B
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Variant information Variant position: help 246 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] 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: help From Arginine (R) to Glutamine (Q) at position 246 (R246Q, p.Arg246Gln). 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: help Change from large size and basic (R) to medium size and polar (Q) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 1 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: help In FSGS10; decreased transcriptional activity. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 246 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 402 The length of the canonical sequence.
Location on the sequence: help LTTQQRRAFKASFEVSSKPC R KVRETLAAETGLSVRVVQVW 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         LTTQQRRAFKASFEVSSKPCRKVRETLAAETGLSVRVVQVW

Mouse                         LTTQQRRAFKASFEVSSKPCRKVRETLAAETGLSVRVVQVW

Chicken                       LTTQQRRAFKASFEVSSKPCRKVRETLAAETGLSVRVVQVW

Xenopus laevis                LTTQQRRAFKASFEVSSKPCRKVRETLAAETGLSVRVVQVW
Sequence annotation in neighborhood: help 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.
TypePositionsDescription
Chain 1 – 402 LIM homeobox transcription factor 1-beta
DNA binding 219 – 278 Homeobox
Mutagenesis 265 – 265 V -> L. Loss of transcriptional activity.



Literature citations
LMX1B mutations cause hereditary FSGS without extrarenal involvement.
Boyer O.; Woerner S.; Yang F.; Oakeley E.J.; Linghu B.; Gribouval O.; Tete M.J.; Duca J.S.; Klickstein L.; Damask A.J.; Szustakowski J.D.; Heibel F.; Matignon M.; Baudouin V.; Chantrel F.; Champigneulle J.; Martin L.; Nitschke P.; Gubler M.C.; Johnson K.J.; Chibout S.D.; Antignac C.;
J. Am. Soc. Nephrol. 24:1216-1222(2013)
Cited for: VARIANTS FSGS10 GLN-246 AND PRO-246; INVOLVEMENT IN FSGS10; LMX1B mutation with residual transcriptional activity as a cause of isolated glomerulopathy.
Isojima T.; Harita Y.; Furuyama M.; Sugawara N.; Ishizuka K.; Horita S.; Kajiho Y.; Miura K.; Igarashi T.; Hattori M.; Kitanaka S.;
Nephrol. Dial. Transplant. 29:81-88(2014)
Cited for: VARIANT FSGS10 GLN-246; CHARACTERIZATION OF VARIANT FSGS10 GLN-246; INVOLVEMENT IN FSGS10; FUNCTION; MUTAGENESIS OF VAL-265; Clinical and histological findings of autosomal dominant renal-limited disease with LMX1B mutation.
Konomoto T.; Imamura H.; Orita M.; Tanaka E.; Moritake H.; Sato Y.; Fujimoto S.; Harita Y.; Hisano S.; Yoshiura K.; Nunoi H.;
Nephrology 21:765-773(2016)
Cited for: VARIANT FSGS10 GLN-246; INVOLVEMENT IN FSGS10; Dysregulation of WTI (-KTS) is associated with the kidney-specific effects of the LMX1B R246Q mutation.
Hall G.; Lane B.; Chryst-Ladd M.; Wu G.; Lin J.J.; Qin X.; Hauser E.R.; Gbadegesin R.;
Sci. Rep. 7:39933-39933(2017)
Cited for: VARIANT FSGS10 GLN-246; INVOLVEMENT IN FSGS10; FUNCTION; Nail-patella-like renal disease masquerading as Fabry disease on kidney biopsy: a case report.
Pinto E Vairo F.; Pichurin P.N.; Fervenza F.C.; Nasr S.H.; Mills K.; Schmitz C.T.; Klee E.W.; Herrmann S.M.;
BMC Nephrol. 21:341-341(2020)
Cited for: VARIANT FSGS10 GLN-246; Myelin bodies in LMX1B-associated nephropathy: potential for misdiagnosis.
Lei L.; Oh G.; Sutherland S.; Abra G.; Higgins J.; Sibley R.; Troxell M.; Kambham N.;
Pediatr. Nephrol. 35:1647-1657(2020)
Cited for: VARIANT FSGS10 GLN-246;
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.