UniProtKB/Swiss-Prot Q96J84: Variant p.Ser573Leu

Kin of IRRE-like protein 1
Gene: KIRREL1
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Variant information Variant position:

573 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 Serine (S) to Leucine (L) at position 573 (S573L, p.Ser573Leu). 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 small size and polar (S) to medium size and hydrophobic (L) 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:

In NPHS23; uncertain significance; affects integrity of podocyte cell-cell junctions and leads to altered cellular permeability. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs139995772 [ dbSNP | Ensembl ]

Sequence information Variant position:

573 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

757 The length of the canonical sequence.
Location on the sequence:

DREDDTASVSTATRVMKAIY S SFKDDVDLKQDLRCDTIDTR 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                         DREDDTASVSTATRVMKAIYSSFKDDVDLKQDLRCDTIDTR

Mouse                         DREDDTASISTATRVMKAIYSSFKDDVDLKQDLRCDTIDTR

Rat                           DREDDTTSISTATRVMKAIYSSFKDDVDLKQDLHCDTIETR

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	17 – 757	Kin of IRRE-like protein 1
Topological domain	521 – 757	Cytoplasmic
Modified residue	574 – 574	Phosphoserine

Literature citations
Mutations in KIRREL1, a slit diaphragm component, cause steroid-resistant nephrotic syndrome.
Solanki A.K.; Widmeier E.; Arif E.; Sharma S.; Daga A.; Srivastava P.; Kwon S.H.; Hugo H.; Nakayama M.; Mann N.; Majmundar A.J.; Tan W.; Gee H.Y.; Sadowski C.E.; Rinat C.; Becker-Cohen R.; Bergmann C.; Rosen S.; Somers M.; Shril S.; Huber T.B.; Mane S.; Hildebrandt F.; Nihalani D.;
Kidney Int. 96:883-889(2019)
Cited for: FUNCTION; SUBCELLULAR LOCATION; INVOLVEMENT IN NPHS23; VARIANTS NPHS23 CYS-440 AND LEU-573; CHARACTERIZATION OF VARIANTS NPHS23 CYS-440 AND LEU-573;

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.