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UniProtKB/Swiss-Prot P55268: Variant p.Asn1380Lys

Laminin subunit beta-2
Gene: LAMB2
Variant information

Variant position:  1380
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Disease [Disclaimer]
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants implicated in disease according to literature reports.
  • Polymorphism: Variants not reported to be implicated in disease.
  • Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:  From Asparagine (N) to Lysine (K) at position 1380 (N1380K, p.Asn1380Lys).
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 polar (N) to large size and basic (K)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  0
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

Involvement in disease:  Pierson syndrome (PIERSS) [MIM:609049]: Characterized by nephrotic syndrome with neonatal onset, diffuse mesangial sclerosis and eye abnormalities with microcoria as the leading clinical feature. Death usually occurs within the first weeks of life. Disease severity depends on the mutation type: nontruncating LAMB2 mutations may display variable phenotypes ranging from a milder variant of Pierson syndrome to isolated congenital nephrotic syndrome. {ECO:0000269|PubMed:15367484, ECO:0000269|PubMed:16912710}. Note=The disease is caused by mutations affecting the gene represented in this entry.
The name and a short description of the disease associated with the variant. For more information about the disease, the user can refer to OMIM, following the link provided after the disease acronym.

Involvement in disease:  Nephrotic syndrome 5 with or without ocular abnormalities (NPHS5) [MIM:614199]: A form of nephrotic syndrome, a renal disease clinically characterized by severe proteinuria, resulting in complications such as hypoalbuminemia, hyperlipidemia and edema. Kidney biopsies show non-specific histologic changes such as focal segmental glomerulosclerosis and diffuse mesangial proliferation. Some affected individuals have an inherited steroid-resistant form and progress to end-stage renal failure. NPHS5 is characterized by very early onset of progressive renal failure. A subset of patients may develop mild ocular anomalies, such as myopia, nystagmus, and strabismus. {ECO:0000269|PubMed:20798252, ECO:0000269|PubMed:21236492}. Note=The disease is caused by mutations affecting the gene represented in this entry.
The name and a short description of the disease associated with the variant. For more information about the disease, the user can refer to OMIM, following the link provided after the disease acronym.

Variant description:  In PIERSS and NPHS5; with mild ocular abnormalities; associated with F-1393.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.



Sequence information

Variant position:  1380
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  1798
The length of the canonical sequence.

Location on the sequence:   NSASARHRTEALMDAQKEDF  N SKHMANQRALGKLSAHTHTL
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                         NSASARHRTEALMDAQKEDFNSKHMANQRALGKLSAHTHTL

Mouse                         NSADTRRRTEVLMGAQKENFNRQHLANQQALGRLSAHAHTL

Rat                           NSADTRRRAEVLMGAQRENFNRQHLANQQALGRLSTHTHTL

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.

TypePositionsDescription
Chain 33 – 1798 Laminin subunit beta-2
Region 1190 – 1409 Domain II


Literature citations

Recessive missense mutations in LAMB2 expand the clinical spectrum of LAMB2-associated disorders.
Hasselbacher K.; Wiggins R.C.; Matejas V.; Hinkes B.G.; Mucha B.; Hoskins B.E.; Ozaltin F.; Nuernberg G.; Becker C.; Hangan D.; Pohl M.; Kuwertz-Broeking E.; Griebel M.; Schumacher V.; Royer-Pokora B.; Bakkaloglu A.; Nuernberg P.; Zenker M.; Hildebrandt F.;
Kidney Int. 70:1008-1012(2006)
Cited for: VARIANTS PIERSS GLN-246; ARG-321; LYS-1380 AND PHE-1393;

Immunosuppression and renal outcome in congenital and pediatric steroid-resistant nephrotic syndrome.
Buescher A.K.; Kranz B.; Buescher R.; Hildebrandt F.; Dworniczak B.; Pennekamp P.; Kuwertz-Broeking E.; Wingen A.M.; John U.; Kemper M.; Monnens L.; Hoyer P.F.; Weber S.; Konrad M.;
Clin. J. Am. Soc. Nephrol. 5:2075-2084(2010)
Cited for: VARIANTS NPHS5 ARG-321; LYS-1380 AND PHE-1393;

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.