TNXB R48P - GET-Evidence

Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.

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(TNXB Arg48Pro)

Short summary


Variant evidence

PolyPhen-2 reports that neither AA1 ( R ) nor AA2 ( P ) in input matches P22105 query sequence residue (V) at position (48).

Functional -
Case/Control -
Familial -
Clinical importance
Severity -
Treatability -
Penetrance -


Insufficiently evaluated not reviewed

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern


Summary of published research, and additional commentary


Allele frequency

  • None available.


Zweers MC, Bristow J, Steijlen PM, Dean WB, Hamel BC, Otero M, Kucharekova M, Boezeman JB, Schalkwijk J. Haploinsufficiency of TNXB is associated with hypermobility type of Ehlers-Danlos syndrome. Am J Hum Genet. 2003 Jul;73(1):214-7. PubMed PMID: 12865992; PubMed Central PMCID: PMC1180584.

Heterozygotes for a 30-kb deletion of TNXB or a frameshift allele that causes termination at amino acid 1231 exhibit joint hypermobility like that of Ehlers-Danlos Syndrome, but not skin hypermobility or easy bruising.



show discussion


PGP89 has no symptoms of joint hypermobility, so TNXB-K2907R does not cause autosomal dominant Ehlers-Danlos syndrome like that caused by a 30 kb deletion of TNXB or the TNXB-V1195M substitution (PMID: 12865992).


hu034DB1 - CGI sample GS00253-DNA_A02_200_37
hom G @ chr6:31980000


hu0D879F - CGI sample GS00253-DNA_G01_200_37
hom G @ chr6:31980000













hu604D39 - CGI sample GS00253-DNA_B02_200_37
hom G @ chr6:31980000







hu9385BA - CGI sample GS00253-DNA_E01_200_37
hom G @ chr6:31980000




huAE6220 - CGI sample GS00253-DNA_H01_200_37
hom G @ chr6:31980000




huC30901 - CGI sample GS00253-DNA_B01_200_37
hom G @ chr6:31980000



huE80E3D - CGI sample GS00253-DNA_D01_200_37
hom G @ chr6:31980000


Other external references

  • rs12208559

Other in silico analyses

  • NBLOSUM100 score = 5
  • GET-Evidence autoscore = 2

Edit history

Gene search

"GENE" or "GENE A123C":

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