Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
---|---|---|---|---|
IC | 35429 | 106510;106511;106512 | chr2:178530330;178530329;178530328 | chr2:179395057;179395056;179395055 |
N2AB | 33788 | 101587;101588;101589 | chr2:178530330;178530329;178530328 | chr2:179395057;179395056;179395055 |
N2A | 32861 | 98806;98807;98808 | chr2:178530330;178530329;178530328 | chr2:179395057;179395056;179395055 |
N2B | 26364 | 79315;79316;79317 | chr2:178530330;178530329;178530328 | chr2:179395057;179395056;179395055 |
Novex-1 | 26489 | 79690;79691;79692 | chr2:178530330;178530329;178530328 | chr2:179395057;179395056;179395055 |
Novex-2 | 26556 | 79891;79892;79893 | chr2:178530330;178530329;178530328 | chr2:179395057;179395056;179395055 |
Novex-3 | None | None | chr2:None | chr2:None |
SNV | RS | DUET |
PolyPhen-2 |
Condel |
Rhapsody |
REVEL |
MVP |
Source |
MAF |
Disease |
Zygosity |
Site annotation |
mCSM PPI |
Predicted PPI site |
Comments |
AFR |
AMR |
AMS |
ASJ |
EAS |
EUR |
FIN |
MDE |
NFE |
SAS |
OTH |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
T/A | None | None | 0.037 | N | 0.323 | 0.054 | 0.21279746466 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
T/I | rs1241466221 | None | 0.002 | N | 0.219 | 0.137 | 0.320256813643 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
T/I | rs1241466221 | None | 0.002 | N | 0.219 | 0.137 | 0.320256813643 | gnomAD-4.0.0 | 6.56961E-06 | None | None | None | None | N | None | 2.41243E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
T/K | rs1241466221 | -0.474 | 0.001 | N | 0.297 | 0.251 | 0.352476196916 | gnomAD-2.1.1 | 2.01E-05 | None | None | None | None | N | None | 0 | 1.44852E-04 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
T/K | rs1241466221 | -0.474 | 0.001 | N | 0.297 | 0.251 | 0.352476196916 | gnomAD-4.0.0 | 7.95484E-06 | None | None | None | None | N | None | 0 | 1.14317E-04 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
T/S | rs878963350 | None | 0.157 | N | 0.373 | 0.07 | None | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 4.82E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
T/S | rs878963350 | None | 0.157 | N | 0.373 | 0.07 | None | gnomAD-4.0.0 | 1.3137E-05 | None | None | None | None | N | None | 4.82323E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
SAV |
AlphaMissense (IC) |
AlphaMissense Class (IC) |
AlphaMissense (N2AB) |
AlphaMissense Class (N2AB) |
mCSM |
mCSM class |
PolyPhen-2 |
PolyPhen-2 Class |
Rhapsody |
Rhapsody Class |
Condel |
Condel Score |
Site annotation |
mCSM PPI |
Predicted PPI site |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
T/A | 0.0944 | likely_benign | 0.0963 | benign | -0.802 | Destabilizing | 0.037 | N | 0.323 | neutral | N | 0.470834862 | None | None | N |
T/C | 0.5945 | likely_pathogenic | 0.5967 | pathogenic | -0.457 | Destabilizing | 0.953 | D | 0.352 | neutral | None | None | None | None | N |
T/D | 0.4552 | ambiguous | 0.4665 | ambiguous | -0.097 | Destabilizing | 0.198 | N | 0.399 | neutral | None | None | None | None | N |
T/E | 0.3261 | likely_benign | 0.3325 | benign | -0.089 | Destabilizing | 0.11 | N | 0.381 | neutral | None | None | None | None | N |
T/F | 0.2656 | likely_benign | 0.2684 | benign | -0.912 | Destabilizing | 0.464 | N | 0.419 | neutral | None | None | None | None | N |
T/G | 0.3376 | likely_benign | 0.3492 | ambiguous | -1.066 | Destabilizing | 0.198 | N | 0.418 | neutral | None | None | None | None | N |
T/H | 0.337 | likely_benign | 0.3432 | ambiguous | -1.365 | Destabilizing | 0.953 | D | 0.4 | neutral | None | None | None | None | N |
T/I | 0.135 | likely_benign | 0.1411 | benign | -0.189 | Destabilizing | 0.002 | N | 0.219 | neutral | N | 0.433777984 | None | None | N |
T/K | 0.2013 | likely_benign | 0.2026 | benign | -0.671 | Destabilizing | 0.001 | N | 0.297 | neutral | N | 0.468989423 | None | None | N |
T/L | 0.1255 | likely_benign | 0.1289 | benign | -0.189 | Destabilizing | 0.008 | N | 0.31 | neutral | None | None | None | None | N |
T/M | 0.1022 | likely_benign | 0.1046 | benign | 0.07 | Stabilizing | 0.008 | N | 0.264 | neutral | None | None | None | None | N |
T/N | 0.1704 | likely_benign | 0.1708 | benign | -0.632 | Destabilizing | 0.464 | N | 0.38 | neutral | None | None | None | None | N |
T/P | 0.5111 | ambiguous | 0.539 | ambiguous | -0.36 | Destabilizing | 0.57 | D | 0.387 | neutral | N | 0.50350755 | None | None | N |
T/Q | 0.263 | likely_benign | 0.2686 | benign | -0.747 | Destabilizing | 0.464 | N | 0.369 | neutral | None | None | None | None | N |
T/R | 0.1646 | likely_benign | 0.1672 | benign | -0.499 | Destabilizing | 0.085 | N | 0.399 | neutral | N | 0.457041633 | None | None | N |
T/S | 0.1484 | likely_benign | 0.1533 | benign | -0.916 | Destabilizing | 0.157 | N | 0.373 | neutral | N | 0.50033105 | None | None | N |
T/V | 0.1334 | likely_benign | 0.1353 | benign | -0.36 | Destabilizing | 0.001 | N | 0.11 | neutral | None | None | None | None | N |
T/W | 0.6916 | likely_pathogenic | 0.7137 | pathogenic | -0.863 | Destabilizing | 0.953 | D | 0.441 | neutral | None | None | None | None | N |
T/Y | 0.3384 | likely_benign | 0.3452 | ambiguous | -0.617 | Destabilizing | 0.637 | D | 0.428 | neutral | None | None | None | None | N |
Titin has multiple isoforms, the longest being the theoretical IC (inferred complete) isoform which contains all 363 in-frame titin exons. Here all isoform positions have been mapped onto the IC sequence, with an exception being the C-terminal of the much shorter novex-3 isoform. This contains the out of frame exon 48 which cannot be mapped to the other isoforms.