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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q92838: Variant p.Ile260Ser

Ectodysplasin-A
Gene: EDA
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Variant information Variant position: help 260
Type of variant: help LP/P [Disclaimer]
Residue change: help From Isoleucine (I) to Serine (S) at position 260 (I260S, p.Ile260Ser).
Physico-chemical properties: help Change from medium size and hydrophobic (I) to small size and polar (S)
BLOSUM score: help -2
Variant description: help In STHAGX1.


Sequence information Variant position: help 260
Protein sequence length: help 391
Location on the sequence: help KAGTRENQPAVVHLQGQGSA I QVKNDLSGGVLNDWSRITMN
Residue conservation: help
Human                         KAGTRENQPAVVHLQGQGSAIQVKNDLSGGVLNDWSRITMN

Mouse                         KTGTRENQPAVVHLQGQGSAIQVKNDLSGGVLNDWSRITMN

Bovine                        KAGTRENQPAVVHLQGQGSAIQVKNDLSGGVLNDWSRITMN

Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 391 Ectodysplasin-A, membrane form
Chain 160 – 391 Ectodysplasin-A, secreted form
Topological domain 63 – 391 Extracellular
Domain 249 – 385 THD
Alternative sequence 136 – 391 Missing. In isoform 2.
Alternative sequence 143 – 391 Missing. In isoform 5.
Alternative sequence 148 – 391 Missing. In isoform 4, isoform 6 and isoform 7.
Beta strand 257 – 261



Literature citations
Novel EDA p.Ile260Ser mutation linked to non-syndromic hypodontia.
Yang Y.; Luo L.; Xu J.; Zhu P.; Xue W.; Wang J.; Li W.; Wang M.; Cheng K.; Liu S.; Tang Z.; Ring B.Z.; Su L.;
J. Dent. Res. 92:500-506(2013)
Cited for: VARIANT STHAGX1 SER-260;
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.