Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 22995 | 69208;69209;69210 | chr2:178577352;178577351;178577350 | chr2:179442079;179442078;179442077 |
| N2AB | 21354 | 64285;64286;64287 | chr2:178577352;178577351;178577350 | chr2:179442079;179442078;179442077 |
| N2A | 20427 | 61504;61505;61506 | chr2:178577352;178577351;178577350 | chr2:179442079;179442078;179442077 |
| N2B | 13930 | 42013;42014;42015 | chr2:178577352;178577351;178577350 | chr2:179442079;179442078;179442077 |
| Novex-1 | 14055 | 42388;42389;42390 | chr2:178577352;178577351;178577350 | chr2:179442079;179442078;179442077 |
| Novex-2 | 14122 | 42589;42590;42591 | chr2:178577352;178577351;178577350 | chr2:179442079;179442078;179442077 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
Reported SAVs
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/P | rs879410317  |
0.372 | 0.662 | N | 0.307 | 0.359 | 0.446410834509 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.89E-06 | 0 |
| Q/P | rs879410317 |
0.372 | 0.662 | N | 0.307 | 0.359 | 0.446410834509 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.95E-05 | 0 | 0 |
| Q/P | rs879410317 |
0.372 | 0.662 | N | 0.307 | 0.359 | 0.446410834509 | gnomAD-4.0.0 | 4.96031E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.08688E-06 | 0 | 3.20359E-05 |
Saturation Mutagenesis
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/A | 0.1936 | likely_benign | 0.1842 | benign | -0.531 | Destabilizing | 0.103 | N | 0.188 | neutral | None | None | None | None | N |
| Q/C | 0.5322 | ambiguous | 0.4771 | ambiguous | 0.029 | Stabilizing | 0.965 | D | 0.295 | neutral | None | None | None | None | N |
| Q/D | 0.3026 | likely_benign | 0.2907 | benign | -0.686 | Destabilizing | 0.209 | N | 0.179 | neutral | None | None | None | None | N |
| Q/E | 0.0769 | likely_benign | 0.0763 | benign | -0.63 | Destabilizing | 0.001 | N | 0.093 | neutral | N | 0.494154439 | None | None | N |
| Q/F | 0.6055 | likely_pathogenic | 0.5625 | ambiguous | -0.491 | Destabilizing | 0.818 | D | 0.382 | neutral | None | None | None | None | N |
| Q/G | 0.2841 | likely_benign | 0.2731 | benign | -0.837 | Destabilizing | 0.345 | N | 0.267 | neutral | None | None | None | None | N |
| Q/H | 0.1415 | likely_benign | 0.1295 | benign | -0.924 | Destabilizing | 0.003 | N | 0.145 | neutral | D | 0.523458626 | None | None | N |
| Q/I | 0.2764 | likely_benign | 0.2501 | benign | 0.226 | Stabilizing | 0.39 | N | 0.382 | neutral | None | None | None | None | N |
| Q/K | 0.0961 | likely_benign | 0.0942 | benign | -0.201 | Destabilizing | 0.001 | N | 0.098 | neutral | N | 0.444995055 | None | None | N |
| Q/L | 0.137 | likely_benign | 0.1227 | benign | 0.226 | Stabilizing | 0.001 | N | 0.167 | neutral | N | 0.512702915 | None | None | N |
| Q/M | 0.2817 | likely_benign | 0.2578 | benign | 0.771 | Stabilizing | 0.818 | D | 0.245 | neutral | None | None | None | None | N |
| Q/N | 0.2149 | likely_benign | 0.2026 | benign | -0.696 | Destabilizing | 0.345 | N | 0.171 | neutral | None | None | None | None | N |
| Q/P | 0.6317 | likely_pathogenic | 0.6428 | pathogenic | 0.005 | Stabilizing | 0.662 | D | 0.307 | neutral | N | 0.520486169 | None | None | N |
| Q/R | 0.114 | likely_benign | 0.108 | benign | -0.143 | Destabilizing | 0.166 | N | 0.2 | neutral | N | 0.476742114 | None | None | N |
| Q/S | 0.193 | likely_benign | 0.1854 | benign | -0.746 | Destabilizing | 0.021 | N | 0.089 | neutral | None | None | None | None | N |
| Q/T | 0.132 | likely_benign | 0.1239 | benign | -0.507 | Destabilizing | 0.007 | N | 0.113 | neutral | None | None | None | None | N |
| Q/V | 0.1774 | likely_benign | 0.1659 | benign | 0.005 | Stabilizing | 0.209 | N | 0.299 | neutral | None | None | None | None | N |
| Q/W | 0.5302 | ambiguous | 0.501 | ambiguous | -0.391 | Destabilizing | 0.991 | D | 0.301 | neutral | None | None | None | None | N |
| Q/Y | 0.3612 | ambiguous | 0.334 | benign | -0.127 | Destabilizing | 0.561 | D | 0.375 | 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.