UniProtKB/Swiss-Prot Q8WU66: Variant p.Asp639Asn

Thrombospondin-type laminin G domain and EAR repeat-containing protein
Gene: TSPEAR
Feedback?

Variant information Variant position:

639 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 Asparagine (N) at position 639 (D639N, p.Asp639Asn). 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 medium size and polar (N) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

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:

In ECTD14 and STHAG10; uncertain significance. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs138480801 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

RWQGYEGFVAVHSLPTVGCR D WEAFSTTAGAYLIYSSAKEP 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                         RWQGYEGFVAVHSLPTVGCRDWEAFSTTAGAYLIYSSAKEP

Mouse                         RWQGYEGFVAVHKLPTFGCRDWEAFNTTAGSYLIYSSAKEP

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	20 – 669	Thrombospondin-type laminin G domain and EAR repeat-containing protein
Repeat	625 – 668	EAR 7
Alternative sequence	599 – 669	Missing. In isoform 2.

Literature citations
Mutations in TSPEAR, Encoding a Regulator of Notch Signaling, Affect Tooth and Hair Follicle Morphogenesis.
Peled A.; Sarig O.; Samuelov L.; Bertolini M.; Ziv L.; Weissglas-Volkov D.; Eskin-Schwartz M.; Adase C.A.; Malchin N.; Bochner R.; Fainberg G.; Goldberg I.; Sugawara K.; Baniel A.; Tsuruta D.; Luxenburg C.; Adir N.; Duverger O.; Morasso M.; Shalev S.; Gallo R.L.; Shomron N.; Paus R.; Sprecher E.;
PLoS Genet. 12:E1006369-E1006369(2016)
Cited for: VARIANTS ECTD14 PHE-576; ASN-618 AND ASN-639; INVOLVEMENT IN ECTD14; FUNCTION; TSPEAR variants are primarily associated with ectodermal dysplasia and tooth agenesis but not hearing loss: A novel cohort study.
Bowles B.; Ferrer A.; Nishimura C.J.; Pinto Vairo F.; Rey T.; Leheup B.; Sullivan J.; Schoch K.; Stong N.; Agolini E.; Cocciadiferro D.; Williams A.; Cummings A.; Loddo S.; Genovese S.; Roadhouse C.; McWalter K.; Wentzensen I.M.; Li C.; Babovic-Vuksanovic D.; Lanpher B.C.; Dentici M.L.; Ankala A.; Hamm J.A.; Dallapiccola B.; Radio F.C.; Shashi V.; Gerard B.; Bloch-Zupan A.; Smith R.J.; Klee E.W.;
Am. J. Med. Genet. A 185:2417-2433(2021)
Cited for: VARIANTS ECTD14 TRP-80; 197-ARG--ARG-669 DEL; 314-TYR--ARG-669 DEL; GLN-490; ASP-525 AND ILE-585; VARIANTS DFNB98 LEU-178 AND ALA-388; VARIANTS STHAG10 197-ARG--ARG-669 DEL; GLN-444; 555-GLN--ARG-669 DEL AND ASN-639;

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.