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UniProtKB/Swiss-Prot Q8IZS6: Variant p.Arg88Ile

Dynein light chain Tctex-type protein 2
Gene: DYNLT2
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Variant information Variant position: help 88
Type of variant: help LB/B
Residue change: help From Arginine (R) to Isoleucine (I) at position 88 (R88I, p.Arg88Ile).
Physico-chemical properties: help Change from large size and basic (R) to medium size and hydrophobic (I)
BLOSUM score: help -3
Other resources: help


Sequence information Variant position: help 88
Protein sequence length: help 198
Location on the sequence: help ADIGKEWKSALAKLKFANSY R MEPLKKFQAHSVETKVQQIL
Residue conservation: help 
Human                         ADIGKEWKSALAKLKFANSYRMEPLKKFQAHSVETKVQQIL

Mouse                         ADVGKEWKSALAKLKFANSYRMEPLKKFQAHLVETKIQQIL
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 198 Dynein light chain Tctex-type protein 2



Literature citations
Identification of the human ortholog of the T-complex-encoded protein TCTE3 and evaluation as a candidate gene for primary ciliary dyskinesia.
Neesen J.; Drenckhahn J.-D.; Tiede S.; Burfeind P.; Grzmil M.; Konietzko J.; Dixkens C.; Kreutzberger J.; Laccone F.; Omran H.;
Cytogenet. Genome Res. 98:38-44(2002)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANTS VAL-67 AND ILE-88; TISSUE SPECIFICITY; POSSIBLE FUNCTION IN AXONEMAL DYNEIN;
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.