UniProtKB/Swiss-Prot Q8NBF2: Variant p.Asp148Tyr

NHL repeat-containing protein 2
Gene: NHLRC2
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Variant information Variant position:

148 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 Aspartate (D) to Tyrosine (Y) at position 148 (D148Y, p.Asp148Tyr). 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 acidic (D) to large size and aromatic (Y) 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 FINCA; uncertain significance; decreases protein stability. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs201701259 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

VLDNIKSAVLRYNITHPMVN D ADASLWQELEVSCWPTLVIL 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                         VLDNIKSAVLRYNITHPMVNDADASLWQELEVSCWPTLVIL

Mouse                         VLDNIKSAVLRYNITHPVVNDADASLWQELEVSCWPTLVIL

Bovine                        VLDNIRSAVLRYNITHPVVNDADASLWQELEVSCWPTLIIL

Chicken                       VLDSIKSAVLRYNIVHPVVNDADATLWHELEVSCWPTLVIL

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 – 726	NHL repeat-containing protein 2
Domain	43 – 200	Thioredoxin
Alternative sequence	1 – 359	Missing. In isoform 2.

Literature citations
Structural analysis of human NHLRC2, mutations of which are associated with FINCA disease.
Biterova E.; Ignatyev A.; Uusimaa J.; Hinttala R.; Ruddock L.W.;
PLoS ONE 13:E0202391-E0202391(2018)
Cited for: X-RAY CRYSTALLOGRAPHY (1.75 ANGSTROMS) OF 221-572; X-RAY CRYSTALLOGRAPHY (2.7 ANGSTROMS) OF 1-572; SUBUNIT; CHARACTERIZATION OF VARIANT TYR-148; NHLRC2 variants identified in patients with fibrosis, neurodegeneration, and cerebral angiomatosis (FINCA): characterisation of a novel cerebropulmonary disease.
Uusimaa J.; Kaarteenaho R.; Paakkola T.; Tuominen H.; Karjalainen M.K.; Nadaf J.; Varilo T.; Uusi-Maekelae M.; Suo-Palosaari M.; Pietilae I.; Hiltunen A.E.; Ruddock L.; Alanen H.; Biterova E.; Miinalainen I.; Salminen A.; Soininen R.; Manninen A.; Sormunen R.; Kaakinen M.; Vuolteenaho R.; Herva R.; Vieira P.; Dunder T.; Kokkonen H.; Moilanen J.S.; Rantala H.; Nogee L.M.; Majewski J.; Raemet M.; Hallman M.; Hinttala R.;
Acta Neuropathol. 135:727-742(2018)
Cited for: VARIANT FINCA TYR-148; LACK OF THIOREDOXIN ACTIVITY; TISSUE SPECIFICITY; INVOLVEMENT IN FINCA;

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.