UniProtKB/Swiss-Prot Q00604: Variant p.Leu108Pro

Norrin
Gene: NDP
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Variant information Variant position:

108 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 Proline (P) at position 108 (L108P, p.Leu108Pro). 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:

Similar physico-chemical property. Both residues are medium size and hydrophobic. The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

-3 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 retinopathy of prematurity. Any additional useful information about the variant.

Sequence information Variant position:

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

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

PFRSSCHCCRPQTSKLKALR L RCSGGMRLTATYRYILSCHC 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                         PFRSSCHCCRPQTSKLKALRLRCSGGMRLTATYRYILSCHC

Mouse                         PFRSSCHCCRPQTSKLKALRLRCSGGMRLTATYRYILSCHC

Bovine                        PFRSSCHCCRPQTSKLKALRLRCSGGMRLTATYRYILSCHC

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	25 – 133	Norrin
Domain	39 – 132	CTCK
Disulfide bond	55 – 110
Disulfide bond	65 – 126
Disulfide bond	69 – 128
Disulfide bond	93 – 93	Interchain (with C-95)
Disulfide bond	95 – 95	Interchain (with C-93)
Mutagenesis	95 – 95	C -> A. Impairs oligomerization.
Beta strand	94 – 110

Literature citations
Identification of novel missense mutations in the Norrie disease gene associated with one X-linked and four sporadic cases of familial exudative vitreoretinopathy.
Shastry B.S.; Hejtmancik J.F.; Trese M.T.;
Hum. Mutat. 9:396-401(1997)
Cited for: VARIANTS EVR2 LYS-41; ARG-42; ASN-58 AND CYS-120; VARIANT RETINOPATHY OF PREMATURITY PRO-108;

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.