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UniProtKB/Swiss-Prot Q9NUM4: Variant p.Asp252Asn

Transmembrane protein 106B
Gene: TMEM106B
Variant information

Variant position:  252
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  LP/P [Disclaimer]
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 252 (D252N, p.Asp252Asn).
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 HLD16.
Any additional useful information about the variant.

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



Sequence information

Variant position:  252
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  274
The length of the canonical sequence.

Location on the sequence:   VTTTYFGHSEQISQERYQYV  D CGRNTTYQLGQSEYLNVLQP
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                         VTTTYFGHSEQISQERYQYVDCGRNTTYQLGQSEYLNVLQP

Mouse                         VTTAYFGHSEQISQERYQYVDCGRNTTYQLAQSEYLNVLQP

Rat                           VTTAYFGHSEQISQERYQYVDCGRNTTYQLAQSEYLNVLQP

Bovine                        VTTTYFGHSEQISQERYQYVDCGRNTTYHLGQSEYLNVLQP

Zebrafish                     VTTVYFGHAEQVSQEMYQYVDCGGNTT---ALHEY-SLNTP

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 2 – 274 Transmembrane protein 106B
Topological domain 118 – 274 Lumenal
Glycosylation 256 – 256 N-linked (GlcNAc...) asparagine


Literature citations

A recurrent de novo mutation in TMEM106B causes hypomyelinating leukodystrophy.
Simons C.; Dyment D.; Bent S.J.; Crawford J.; D'Hooghe M.; Kohlschuetter A.; Venkateswaran S.; Helman G.; Poll-The B.T.; Makowski C.C.; Ito Y.; Kernohan K.; Hartley T.; Waisfisz Q.; Taft R.J.; van der Knaap M.S.; Wolf N.I.;
Brain 140:3105-3111(2017)
Cited for: INVOLVEMENT IN HLD16; VARIANT HLD16 ASN-252;

The recurrent mutation in TMEM106B also causes hypomyelinating leukodystrophy in China and is a CpG hotspot.
Yan H.; Kubisiak T.; Ji H.; Xiao J.; Wang J.; Burmeister M.;
Brain 141:E36-E36(2018)
Cited for: INVOLVEMENT IN HLD16; VARIANT HLD16 ASN-252;

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.