Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
---|---|---|---|---|
IC | 8203 | 24832;24833;24834 | chr2:178718499;178718498;178718497 | chr2:179583226;179583225;179583224 |
N2AB | 7886 | 23881;23882;23883 | chr2:178718499;178718498;178718497 | chr2:179583226;179583225;179583224 |
N2A | 6959 | 21100;21101;21102 | chr2:178718499;178718498;178718497 | chr2:179583226;179583225;179583224 |
N2B | None | None | chr2:None | chr2:None |
Novex-1 | None | None | chr2:None | chr2:None |
Novex-2 | None | None | chr2:None | chr2:None |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
S/N | None | None | None | N | 0.153 | 0.15 | 0.176091768786 | 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 |
S/R | None | None | 0.175 | N | 0.505 | 0.285 | 0.308278614506 | gnomAD-4.0.0 | 1.59154E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.77423E-05 | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
S/A | 0.0946 | likely_benign | 0.0848 | benign | -0.556 | Destabilizing | 0.025 | N | 0.355 | neutral | None | None | None | None | N |
S/C | 0.1413 | likely_benign | 0.1184 | benign | -0.351 | Destabilizing | 0.001 | N | 0.343 | neutral | N | 0.504729453 | None | None | N |
S/D | 0.2869 | likely_benign | 0.2735 | benign | -0.061 | Destabilizing | 0.055 | N | 0.385 | neutral | None | None | None | None | N |
S/E | 0.305 | likely_benign | 0.2997 | benign | -0.015 | Destabilizing | 0.104 | N | 0.382 | neutral | None | None | None | None | N |
S/F | 0.1756 | likely_benign | 0.1559 | benign | -0.542 | Destabilizing | 0.124 | N | 0.527 | neutral | None | None | None | None | N |
S/G | 0.1256 | likely_benign | 0.1096 | benign | -0.859 | Destabilizing | 0.042 | N | 0.362 | neutral | N | 0.492359189 | None | None | N |
S/H | 0.1825 | likely_benign | 0.189 | benign | -1.233 | Destabilizing | 0.667 | D | 0.475 | neutral | None | None | None | None | N |
S/I | 0.1393 | likely_benign | 0.1286 | benign | 0.151 | Stabilizing | None | N | 0.331 | neutral | N | 0.4831163 | None | None | N |
S/K | 0.3078 | likely_benign | 0.3071 | benign | -0.514 | Destabilizing | 0.104 | N | 0.381 | neutral | None | None | None | None | N |
S/L | 0.1099 | likely_benign | 0.0999 | benign | 0.151 | Stabilizing | 0.009 | N | 0.382 | neutral | None | None | None | None | N |
S/M | 0.171 | likely_benign | 0.1638 | benign | 0.181 | Stabilizing | 0.497 | N | 0.478 | neutral | None | None | None | None | N |
S/N | 0.0956 | likely_benign | 0.0949 | benign | -0.574 | Destabilizing | None | N | 0.153 | neutral | N | 0.498584398 | None | None | N |
S/P | 0.8482 | likely_pathogenic | 0.7817 | pathogenic | -0.049 | Destabilizing | 0.364 | N | 0.529 | neutral | None | None | None | None | N |
S/Q | 0.2696 | likely_benign | 0.2787 | benign | -0.582 | Destabilizing | 0.364 | N | 0.466 | neutral | None | None | None | None | N |
S/R | 0.2368 | likely_benign | 0.2384 | benign | -0.538 | Destabilizing | 0.175 | N | 0.505 | neutral | N | 0.487193968 | None | None | N |
S/T | 0.063 | likely_benign | 0.0619 | benign | -0.536 | Destabilizing | None | N | 0.141 | neutral | N | 0.38281602 | None | None | N |
S/V | 0.1619 | likely_benign | 0.146 | benign | -0.049 | Destabilizing | None | N | 0.325 | neutral | None | None | None | None | N |
S/W | 0.2818 | likely_benign | 0.2676 | benign | -0.598 | Destabilizing | 0.958 | D | 0.539 | neutral | None | None | None | None | N |
S/Y | 0.1351 | likely_benign | 0.1269 | benign | -0.286 | Destabilizing | 0.004 | N | 0.335 | 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.