Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 19802 | 59629;59630;59631 | chr2:178592601;178592600;178592599 | chr2:179457328;179457327;179457326 |
| N2AB | 18161 | 54706;54707;54708 | chr2:178592601;178592600;178592599 | chr2:179457328;179457327;179457326 |
| N2A | 17234 | 51925;51926;51927 | chr2:178592601;178592600;178592599 | chr2:179457328;179457327;179457326 |
| N2B | 10737 | 32434;32435;32436 | chr2:178592601;178592600;178592599 | chr2:179457328;179457327;179457326 |
| Novex-1 | 10862 | 32809;32810;32811 | chr2:178592601;178592600;178592599 | chr2:179457328;179457327;179457326 |
| Novex-2 | 10929 | 33010;33011;33012 | chr2:178592601;178592600;178592599 | chr2:179457328;179457327;179457326 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | rs747743986  |
-0.569 | 0.454 | N | 0.343 | 0.204 | 0.256283259241 | gnomAD-2.1.1 | 1.61E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 9.81E-05 | None | 0 | 0 | 1.66334E-04 |
| D/A | rs747743986 |
-0.569 | 0.454 | N | 0.343 | 0.204 | 0.256283259241 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.06954E-04 | 0 |
| D/A | rs747743986 |
-0.569 | 0.454 | N | 0.343 | 0.204 | 0.256283259241 | gnomAD-4.0.0 | 4.95857E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 7.68707E-05 | 1.60133E-05 |
| D/N | rs771426226 |
-0.447 | 0.012 | N | 0.287 | 0.133 | 0.112648838833 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.91E-06 | 0 |
| D/N | rs771426226 |
-0.447 | 0.012 | N | 0.287 | 0.133 | 0.112648838833 | gnomAD-4.0.0 | 1.59202E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85938E-06 | 0 | 0 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.286 | likely_benign | 0.2758 | benign | -0.349 | Destabilizing | 0.454 | N | 0.343 | neutral | N | 0.481202919 | None | None | N |
| D/C | 0.7329 | likely_pathogenic | 0.7407 | pathogenic | 0.108 | Stabilizing | 0.998 | D | 0.433 | neutral | None | None | None | None | N |
| D/E | 0.2014 | likely_benign | 0.1736 | benign | -0.45 | Destabilizing | 0.625 | D | 0.333 | neutral | N | 0.432232749 | None | None | N |
| D/F | 0.7893 | likely_pathogenic | 0.7943 | pathogenic | -0.403 | Destabilizing | 0.991 | D | 0.427 | neutral | None | None | None | None | N |
| D/G | 0.2768 | likely_benign | 0.2633 | benign | -0.564 | Destabilizing | 0.454 | N | 0.329 | neutral | N | 0.455112396 | None | None | N |
| D/H | 0.4373 | ambiguous | 0.456 | ambiguous | -0.46 | Destabilizing | 0.966 | D | 0.349 | neutral | N | 0.484685941 | None | None | N |
| D/I | 0.6731 | likely_pathogenic | 0.6937 | pathogenic | 0.173 | Stabilizing | 0.949 | D | 0.444 | neutral | None | None | None | None | N |
| D/K | 0.5217 | ambiguous | 0.5564 | ambiguous | 0.177 | Stabilizing | 0.842 | D | 0.295 | neutral | None | None | None | None | N |
| D/L | 0.6516 | likely_pathogenic | 0.6694 | pathogenic | 0.173 | Stabilizing | 0.842 | D | 0.406 | neutral | None | None | None | None | N |
| D/M | 0.7402 | likely_pathogenic | 0.7348 | pathogenic | 0.469 | Stabilizing | 0.998 | D | 0.42 | neutral | None | None | None | None | N |
| D/N | 0.1332 | likely_benign | 0.1194 | benign | -0.061 | Destabilizing | 0.012 | N | 0.287 | neutral | N | 0.447455705 | None | None | N |
| D/P | 0.9548 | likely_pathogenic | 0.9655 | pathogenic | 0.022 | Stabilizing | 0.974 | D | 0.347 | neutral | None | None | None | None | N |
| D/Q | 0.4074 | ambiguous | 0.4154 | ambiguous | -0.037 | Destabilizing | 0.974 | D | 0.34 | neutral | None | None | None | None | N |
| D/R | 0.5833 | likely_pathogenic | 0.6331 | pathogenic | 0.258 | Stabilizing | 0.949 | D | 0.405 | neutral | None | None | None | None | N |
| D/S | 0.1832 | likely_benign | 0.162 | benign | -0.185 | Destabilizing | 0.172 | N | 0.267 | neutral | None | None | None | None | N |
| D/T | 0.3807 | ambiguous | 0.3592 | ambiguous | -0.023 | Destabilizing | 0.029 | N | 0.207 | neutral | None | None | None | None | N |
| D/V | 0.4566 | ambiguous | 0.4728 | ambiguous | 0.022 | Stabilizing | 0.801 | D | 0.399 | neutral | N | 0.490593193 | None | None | N |
| D/W | 0.9444 | likely_pathogenic | 0.9546 | pathogenic | -0.307 | Destabilizing | 0.998 | D | 0.558 | neutral | None | None | None | None | N |
| D/Y | 0.4007 | ambiguous | 0.4149 | ambiguous | -0.18 | Destabilizing | 0.989 | D | 0.425 | neutral | N | 0.494460218 | 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.