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UniProtKB/Swiss-Prot Q9UBX5: Variant p.Thr48Ile

Fibulin-5
Gene: FBLN5
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Variant information Variant position: help 48
Type of variant: help LP/P [Disclaimer]
Residue change: help From Threonine (T) to Isoleucine (I) at position 48 (T48I, p.Thr48Ile).
Physico-chemical properties: help Change from medium size and polar (T) to medium size and hydrophobic (I)
BLOSUM score: help -1
Variant description: help In CMT1H.
Other resources: help


Sequence information Variant position: help 48
Protein sequence length: help 448
Location on the sequence: help TNGFDLDRQSGQCLDIDECR T IPEACRGDMMCVNQNGGYLC
Residue conservation: help 
Human                         TNGFDLDRQSGQCLDIDECRTIPEACRGDMMCVNQNGGYLC

Mouse                         TNGFDLDRQSGQCLDIDECRTIPEACRGDMMCVNQNGGYLC

Rat                           TNGFDLDRQTGQCLDIDECRTIPEACRGDMMCVNQNGGYLC

Bovine                        TNGFDLDRSSGQCLDVDECRTIPEACRGDMMCVNQNGGYLC
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 24 – 448 Fibulin-5
Domain 42 – 82 EGF-like 1; calcium-binding
Disulfide bond 46 – 59



Literature citations
Fibulin-5 mutations link inherited neuropathies, age-related macular degeneration and hyperelastic skin.
Auer-Grumbach M.; Weger M.; Fink-Puches R.; Papic L.; Froehlich E.; Auer-Grumbach P.; El Shabrawi-Caelen L.; Schabhuettl M.; Windpassinger C.; Senderek J.; Budka H.; Trajanoski S.; Janecke A.R.; Haas A.; Metze D.; Pieber T.R.; Guelly C.;
Brain 134:1839-1852(2011)
Cited for: VARIANTS CMT1H ILE-48; SER-90; SER-267 AND CYS-373; VARIANT MET-126;
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.