D-arm anticodon arm T-arm acceptor stem 5′ 3′ MT-TH · position 1 · G
m.12138 (rCRS G, + strand)
acceptor stem · pairs with 68
nAPOGEE:
m.12138G>A pathogenic (0.7843)
m.12138G>T likely pathogenic (0.7171)
m.12138G>C likely pathogenic (0.6906) G MT-TH · position 2 · T
m.12139 (rCRS T, + strand)
acceptor stem · pairs with 67
nAPOGEE:
m.12139T>C likely pathogenic (0.7110)
m.12139T>G VUS+ (0.6634)
m.12139T>A VUS+ (0.6514) T MT-TH · position 3 · A
m.12140 (rCRS A, + strand)
acceptor stem · pairs with 66
nAPOGEE:
m.12140A>C VUS (0.5521)
m.12140A>T VUS- (0.4723)
m.12140A>G likely benign (0.3987) A MT-TH · position 4 · A
m.12141 (rCRS A, + strand)
acceptor stem · pairs with 65
nAPOGEE:
m.12141A>C likely benign (0.3227)
m.12141A>T likely benign (0.2737)
m.12141A>G likely benign (0.2151) A MT-TH · position 5 · A
m.12142 (rCRS A, + strand)
acceptor stem · pairs with 64
nAPOGEE:
m.12142A>C VUS- (0.4547)
m.12142A>T likely benign (0.3451)
m.12142A>G likely benign (0.2573) A MT-TH · position 6 · T
m.12143 (rCRS T, + strand)
acceptor stem · pairs with 63
nAPOGEE:
m.12143T>C VUS- (0.4762)
m.12143T>A likely benign (0.4072)
m.12143T>G likely benign (0.3752) T MT-TH · position 7 · A
m.12144 (rCRS A, + strand)
acceptor stem · pairs with 62
nAPOGEE:
m.12144A>C VUS- (0.5050)
m.12144A>T likely benign (0.3948)
m.12144A>G likely benign (0.3846) A MT-TH · position 8 · T
m.12145 (rCRS T, + strand)
single-stranded
nAPOGEE:
m.12145T>A VUS (0.5399)
m.12145T>C VUS (0.5269)
m.12145T>G VUS- (0.5148) T MT-TH · position 9 · A
m.12146 (rCRS A, + strand)
single-stranded
nAPOGEE:
m.12146A>G VUS (0.5985)
m.12146A>C VUS (0.5805)
m.12146A>T VUS (0.5519) A MT-TH · position 10 · G
m.12147 (rCRS G, + strand)
D-arm · pairs with 22
nAPOGEE:
m.12147G>A pathogenic (0.7985)
m.12147G>T pathogenic (0.7674)
m.12147G>C VUS (0.5955) G MT-TH · position 11 · T
m.12148 (rCRS T, + strand)
D-arm · pairs with 21
nAPOGEE:
m.12148T>G likely pathogenic (0.7513)
m.12148T>A likely pathogenic (0.7340)
m.12148T>C likely pathogenic (0.7249) T MT-TH · position 12 · T
m.12149 (rCRS T, + strand)
D-arm · pairs with 20
nAPOGEE:
m.12149T>A VUS+ (0.6622)
m.12149T>C VUS+ (0.6119)
m.12149T>G VUS (0.5744) T MT-TH · position 13 · T
m.12150 (rCRS T, + strand)
D-arm · pairs with 19
nAPOGEE:
m.12150T>C VUS (0.5430)
m.12150T>A VUS- (0.5101)
m.12150T>G VUS- (0.4712) T MT-TH · position 14 · A
m.12151 (rCRS A, + strand)
D-loop
nAPOGEE:
m.12151A>C VUS+ (0.6074)
m.12151A>G VUS (0.5504)
m.12151A>T VUS- (0.4926) A MT-TH · position 15 · A
m.12152 (rCRS A, + strand)
D-loop
nAPOGEE:
m.12152A>C likely benign (0.3342)
m.12152A>G likely benign (0.3187)
m.12152A>T likely benign (0.2983) A MT-TH · position 16 · C
m.12153 (rCRS C, + strand)
D-loop
nAPOGEE:
m.12153C>T likely benign (0.1493)
m.12153C>A likely benign (0.1391)
m.12153C>G likely benign (0.1310) C MT-TH · position 17 · C
m.12154 (rCRS C, + strand)
D-loop
nAPOGEE:
m.12154C>A likely benign (0.1487)
m.12154C>T likely benign (0.1475)
m.12154C>G likely benign (0.1367) C MT-TH · position 18 · A
m.12155 (rCRS A, + strand)
D-loop
nAPOGEE:
m.12155A>C VUS- (0.4681)
m.12155A>G likely benign (0.3855)
m.12155A>T likely benign (0.3641) A MT-TH · position 19 · A
m.12156 (rCRS A, + strand)
D-arm · pairs with 13
nAPOGEE:
m.12156A>C VUS (0.5801)
m.12156A>G VUS- (0.4972)
m.12156A>T VUS- (0.4782) A MT-TH · position 20 · A
m.12157 (rCRS A, + strand)
D-arm · pairs with 12
nAPOGEE:
m.12157A>C VUS+ (0.6205)
m.12157A>G VUS (0.5751)
m.12157A>T VUS- (0.5006) A MT-TH · position 21 · A
m.12158 (rCRS A, + strand)
D-arm · pairs with 11
nAPOGEE:
m.12158A>C VUS+ (0.6404)
m.12158A>T VUS (0.5316)
m.12158A>G VUS (0.5260) A MT-TH · position 22 · C
m.12159 (rCRS C, + strand)
D-arm · pairs with 10
nAPOGEE:
m.12159C>T VUS+ (0.6303)
m.12159C>A VUS (0.5773)
m.12159C>G VUS- (0.4524) C MT-TH · position 23 · A
m.12160 (rCRS A, + strand)
single-stranded
nAPOGEE:
m.12160A>C likely benign (0.3191)
m.12160A>G likely benign (0.2742)
m.12160A>T likely benign (0.2725) A MT-TH · position 24 · T
m.12161 (rCRS T, + strand)
anticodon arm · pairs with 40
nAPOGEE:
m.12161T>C VUS- (0.4413)
m.12161T>A VUS- (0.4356)
m.12161T>G likely benign (0.4245) T MT-TH · position 25 · C
m.12162 (rCRS C, + strand)
anticodon arm · pairs with 39
nAPOGEE:
m.12162C>A VUS (0.5582)
m.12162C>T VUS (0.5258)
m.12162C>G VUS- (0.4683) C MT-TH · position 26 · A
m.12163 (rCRS A, + strand)
anticodon arm · pairs with 38
nAPOGEE:
m.12163A>C VUS+ (0.6229)
m.12163A>G VUS- (0.5120)
m.12163A>T VUS- (0.4813) A MT-TH · position 27 · G
m.12164 (rCRS G, + strand)
anticodon arm · pairs with 37
nAPOGEE:
m.12164G>A pathogenic (0.8122)
m.12164G>T pathogenic (0.7802)
m.12164G>C likely pathogenic (0.7106) G MT-TH · position 28 · A
m.12165 (rCRS A, + strand)
anticodon arm · pairs with 36
nAPOGEE:
m.12165A>C VUS- (0.4425)
m.12165A>T likely benign (0.3965)
m.12165A>G likely benign (0.3955) A MT-TH · position 29 · T
m.12166 (rCRS T, + strand)
anticodon loop
nAPOGEE:
m.12166T>C likely benign (0.3293)
m.12166T>A likely benign (0.2981)
m.12166T>G likely benign (0.2835) T MT-TH · position 30 · T
m.12167 (rCRS T, + strand)
anticodon loop
nAPOGEE:
m.12167T>C VUS- (0.4838)
m.12167T>A likely benign (0.4003)
m.12167T>G likely benign (0.3995) T MT-TH · position 31 · G
m.12168 (rCRS G, + strand)
anticodon loop
nAPOGEE:
m.12168G>T VUS+ (0.6300)
m.12168G>C VUS+ (0.6036)
m.12168G>A VUS (0.5737) G MT-TH · position 32 · T
m.12169 (rCRS T, + strand)
anticodon loop
nAPOGEE:
m.12169T>G VUS (0.5846)
m.12169T>A VUS- (0.4810)
m.12169T>C VUS- (0.4644) T MT-TH · position 33 · G
m.12170 (rCRS G, + strand)
anticodon loop
nAPOGEE:
m.12170G>T likely pathogenic (0.7071)
m.12170G>A VUS+ (0.6629)
m.12170G>C VUS+ (0.6469) G MT-TH · position 34 · A
m.12171 (rCRS A, + strand)
anticodon loop
nAPOGEE:
m.12171A>G likely benign (0.4065)
m.12171A>C likely benign (0.3786)
m.12171A>T likely benign (0.3469) A MT-TH · position 35 · A
m.12172 (rCRS A, + strand)
anticodon loop
nAPOGEE:
m.12172A>G likely benign (0.2125)
m.12172A>T likely benign (0.2077)
m.12172A>C likely benign (0.1882) A MT-TH · position 36 · T
m.12173 (rCRS T, + strand)
anticodon arm · pairs with 28
nAPOGEE:
m.12173T>A likely benign (0.3552)
m.12173T>C likely benign (0.3457)
m.12173T>G likely benign (0.3067) T MT-TH · position 37 · C
m.12174 (rCRS C, + strand)
anticodon arm · pairs with 27
nAPOGEE:
m.12174C>T likely pathogenic (0.7257)
m.12174C>A VUS+ (0.6562)
m.12174C>G VUS (0.5886) C MT-TH · position 38 · T
m.12175 (rCRS T, + strand)
anticodon arm · pairs with 26
nAPOGEE:
m.12175T>C VUS (0.5822)
m.12175T>A VUS (0.5563)
m.12175T>G VUS (0.5477) T MT-TH · position 39 · G
m.12176 (rCRS G, + strand)
anticodon arm · pairs with 25
nAPOGEE:
m.12176G>A likely pathogenic (0.6914)
m.12176G>T VUS+ (0.6238)
m.12176G>C VUS (0.5544) G MT-TH · position 40 · A
m.12177 (rCRS A, + strand)
anticodon arm · pairs with 24
nAPOGEE:
m.12177A>C likely benign (0.3609)
m.12177A>T likely benign (0.3174)
m.12177A>G likely benign (0.2266) A MT-TH · position 41 · C
m.12178 (rCRS C, + strand)
variable loop
nAPOGEE:
m.12178C>T likely benign (0.1515)
m.12178C>G likely benign (0.1335)
m.12178C>A likely benign (0.1314) C MT-TH · position 42 · A
m.12179 (rCRS A, + strand)
variable loop
nAPOGEE:
m.12179A>C likely benign (0.2253)
m.12179A>G likely benign (0.1757)
m.12179A>T likely benign (0.1640) A MT-TH · position 43 · A
m.12180 (rCRS A, + strand)
variable loop
nAPOGEE:
m.12180A>C likely benign (0.3367)
m.12180A>T likely benign (0.2801)
m.12180A>G likely benign (0.2711) A MT-TH · position 44 · C
m.12181 (rCRS C, + strand)
variable loop
nAPOGEE:
m.12181C>T likely benign (0.2190)
m.12181C>G likely benign (0.2056)
m.12181C>A likely benign (0.2051) C MT-TH · position 45 · A
m.12182 (rCRS A, + strand)
T-arm · pairs with 61
nAPOGEE:
m.12182A>C likely benign (0.3866)
m.12182A>T likely benign (0.3057)
m.12182A>G likely benign (0.2581) A MT-TH · position 46 · G
m.12183 (rCRS G, + strand)
T-arm · pairs with 60
nAPOGEE:
m.12183G>A likely pathogenic (0.7135)
m.12183G>T VUS (0.5914)
m.12183G>C VUS- (0.4785) G MT-TH · position 47 · A
m.12184 (rCRS A, + strand)
T-loop
nAPOGEE:
m.12184A>C likely benign (0.1462)
m.12184A>G likely benign (0.1451)
m.12184A>T likely benign (0.1211) A MT-TH · position 48 · G
m.12185 (rCRS G, + strand)
T-arm · pairs with 58
nAPOGEE:
m.12185G>A VUS+ (0.6359)
m.12185G>T VUS (0.5674)
m.12185G>C VUS- (0.4509) G MT-TH · position 49 · G
m.12186 (rCRS G, + strand)
T-arm · pairs with 57
nAPOGEE:
m.12186G>T VUS (0.5804)
m.12186G>A VUS (0.5696)
m.12186G>C VUS- (0.4810) G MT-TH · position 50 · C
m.12187 (rCRS C, + strand)
T-loop
nAPOGEE:
m.12187C>T likely benign (0.2779)
m.12187C>A likely benign (0.2435)
m.12187C>G likely benign (0.1965) C MT-TH · position 51 · T
m.12188 (rCRS T, + strand)
T-loop
nAPOGEE:
m.12188T>C likely benign (0.1637)
m.12188T>A likely benign (0.1382)
m.12188T>G likely benign (0.1246) T MT-TH · position 52 · T
m.12189 (rCRS T, + strand)
T-loop
nAPOGEE:
m.12189T>A benign (0.0862)
m.12189T>C benign (0.0776)
m.12189T>G benign (0.0714) T MT-TH · position 53 · A
m.12190 (rCRS A, + strand)
T-loop
nAPOGEE:
m.12190A>C likely benign (0.2709)
m.12190A>T likely benign (0.2145)
m.12190A>G likely benign (0.2082) A MT-TH · position 54 · C
m.12191 (rCRS C, + strand)
T-loop
nAPOGEE:
m.12191C>T likely benign (0.2100)
m.12191C>A likely benign (0.1841)
m.12191C>G likely benign (0.1619) C MT-TH · position 55 · G
m.12192 (rCRS G, + strand)
T-loop
nAPOGEE:
m.12192G>C likely benign (0.1677)
m.12192G>T likely benign (0.1623)
m.12192G>A likely benign (0.1331) G MT-TH · position 56 · A
m.12193 (rCRS A, + strand)
T-loop
nAPOGEE:
m.12193A>C likely benign (0.1501)
m.12193A>T likely benign (0.1436)
m.12193A>G likely benign (0.1220) A MT-TH · position 57 · C
m.12194 (rCRS C, + strand)
T-arm · pairs with 49
nAPOGEE:
m.12194C>A likely benign (0.3950)
m.12194C>T likely benign (0.3561)
m.12194C>G likely benign (0.3161) C MT-TH · position 58 · C
m.12195 (rCRS C, + strand)
T-arm · pairs with 48
nAPOGEE:
m.12195C>A likely benign (0.3883)
m.12195C>T likely benign (0.3285)
m.12195C>G likely benign (0.2757) C MT-TH · position 59 · C
m.12196 (rCRS C, + strand)
T-loop
nAPOGEE:
m.12196C>A likely benign (0.2791)
m.12196C>G likely benign (0.2350)
m.12196C>T likely benign (0.2181) C MT-TH · position 60 · C
m.12197 (rCRS C, + strand)
T-arm · pairs with 46
nAPOGEE:
m.12197C>A VUS (0.5814)
m.12197C>T VUS- (0.5011)
m.12197C>G likely benign (0.3751) C MT-TH · position 61 · T
m.12198 (rCRS T, + strand)
T-arm · pairs with 45
nAPOGEE:
m.12198T>G VUS (0.5673)
m.12198T>C VUS (0.5509)
m.12198T>A VUS (0.5488) T MT-TH · position 62 · T
m.12199 (rCRS T, + strand)
acceptor stem · pairs with 7
nAPOGEE:
m.12199T>C VUS (0.5469)
m.12199T>A VUS- (0.4865)
m.12199T>G VUS- (0.4744) T MT-TH · position 63 · A
m.12200 (rCRS A, + strand)
acceptor stem · pairs with 6
nAPOGEE:
m.12200A>C likely benign (0.4045)
m.12200A>T likely benign (0.2973)
m.12200A>G likely benign (0.2034) A MT-TH · position 64 · T
m.12201 (rCRS T, + strand)
acceptor stem · pairs with 5
nAPOGEE:
m.12201T>C VUS- (0.4962)
m.12201T>A likely benign (0.4062)
m.12201T>G likely benign (0.3683) T MT-TH · position 65 · T
m.12202 (rCRS T, + strand)
acceptor stem · pairs with 4
nAPOGEE:
m.12202T>C VUS- (0.4878)
m.12202T>A likely benign (0.4075)
m.12202T>G likely benign (0.3594) T MT-TH · position 66 · T
m.12203 (rCRS T, + strand)
acceptor stem · pairs with 3
nAPOGEE:
m.12203T>C VUS (0.5922)
m.12203T>A VUS- (0.4801)
m.12203T>G VUS- (0.4339) T MT-TH · position 67 · A
m.12204 (rCRS A, + strand)
acceptor stem · pairs with 2
nAPOGEE:
m.12204A>C VUS+ (0.6681)
m.12204A>T VUS (0.5847)
m.12204A>G VUS- (0.5181) A MT-TH · position 68 · C
m.12205 (rCRS C, + strand)
acceptor stem · pairs with 1
nAPOGEE:
m.12205C>T pathogenic (0.7760)
m.12205C>A likely pathogenic (0.7423)
m.12205C>G likely pathogenic (0.6923) C MT-TH · position 69 · C
m.12206 (rCRS C, + strand)
discriminator
nAPOGEE:
m.12206C>A VUS+ (0.6007)
m.12206C>G VUS (0.5479)
m.12206C>T VUS- (0.5213) C
ringed: nucleotide 3 of MT-TH
·
dashed: its base-pairing partner
· colour: most pathogenic nAPOGEE call among the 3 possible substitutions
· hover a nucleotide for all three scores.
nAPOGEE class ranges
here