Table 2 of Aitullina, Mol Vis 2013; 19:2343-2351.

Table 2. Summary of molecular data on analyzed samples.

Code of the sample Detected polymorphisms* Change of amino acid Prediction of pathogenicity Other mtDNA coding region polymorphisms HVS-I haplotype Polymorphisms that determine haplogroup and RFLP restriction site HG
Poly
Phen-2 SIFT
LHON-1 G11778A (MT-ND4) Arg340His Damaging Predict Not Tolerated Not checked due to discovery of the primary with LHON-associated mutation rCRS 7028C (−7025 AluI) H
LHON-2 G11778A (MT-ND4) Arg340His Damaging Predict Not Tolerated Not checked due to discovery of the primary with LHON-associated mutation rCRS 7028C (−7025 AluI) H
LHON-3 T6253C (MT-COXI) Met117Thr Benign Predict Tolerated A4769G, T5267C, G8860A, G11914A, T14953C, A15326G 16,126-16184 7028C (−7025 AluI) H
LHON-4 A13637G (MT-ND5) Gln434Arg Benign Predict Tolerated T3197C, A7768G, C9477T, A11467G, A12308G, G12372A, T13617C, T14182C 16,126-16189–16325 7028T (+7025 AluI); A12308G (+12308 HinfI) U5b
LHON-5 A13637G (MT-ND5) Gln434Arg Benign Predict Tolerated A3861G, A4769G, C8441T,G8860A, T9457C, C9477T, A11653G, G11719A, A12308G, G12372A, A12634G, T13617C, A13630G, T14182C, C14766T, G15497A 16,093-16258–16270–16292–16362 7028T (+7025 AluI); A12308G (+12308 HinfI) U5b
LHON-6 A13637G (MT-ND5) Gln434Arg Benign Predict Tolerated T3197C, A7768G, C9477T, A11467G, A12308G, G12372A, T13617C, T14182C 16,126-16189–16325 7028T (+7025 AluI); A12308G (+12308 HinfI) U5b
LHON-7 A13637G (MT-ND5) Gln434Arg Benign Predict Tolerated T3197C, A7768G, C9477T, A11467G, A12308G, G12372A, T13617C, T14182C 16,126-16189–16325 7028T (+7025 AluI); A12308G (+12308 HinfI) U5b
LHON-8 Not revealed A4793G, G8860A, A13434G, A15326G rCRS 7028C (−7025 AluI) H
LHON-9 Not revealed A8860G, G9477A, G9622A, A10283G, A12612G, T14182C 16,189-16270 7028T (+7025 AluI); A12308G (+12308 HinfI) U5a
LHON-10 Not revealed A15326G 16304 7028C (−7025 AluI) H
LHON-11 Not revealed G4580A, A4793G, G8860A, T11899C, A15326G 16,153-16233–16298 A4580G (−4577 NlaIII) V
LHON-12 Not revealed T3552C, A4793G, G4924C, A11467G, A11530G, G11719A, T14110C, A15326G 16,192-16256–16270–16304–16399 7028T (+7025 AluI); A12308G (+12308 HinfI) U5a

*Non-synonymous polymorphisms that are already reported to be associated with LHON disease or novel mutations that are not associated with patient mitochondrial haplogroup; Abbreviations: rCRS – revised Cambridge Reference Sequence [34]; HG – mitochondrial haplogroup; HVS-I – Hypervariable Segment I; F – Female; M –Male; NA – not available; RFLP – Restriction Fragment Length Polymorphism.

Aitullina, Mol Vis 2013; 19:2343-2351. http://www.molvis.org/molvis/v19/2343

©2013 Molecular Vision http://www.molvis.org/molvis/

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