Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 9532 | 28819;28820;28821 | chr2:178709725;178709724;178709723 | chr2:179574452;179574451;179574450 |
| N2AB | 9215 | 27868;27869;27870 | chr2:178709725;178709724;178709723 | chr2:179574452;179574451;179574450 |
| N2A | 8288 | 25087;25088;25089 | chr2:178709725;178709724;178709723 | chr2:179574452;179574451;179574450 |
| 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 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/M | rs749485243  |
-0.289 | None | None | 0.185 | 0.06 | 0.0666544352282 | gnomAD-2.1.1 | 4.01E-06 | None | None | None | None | I | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| I/M | rs749485243 |
-0.289 | None | None | 0.185 | 0.06 | 0.0666544352282 | gnomAD-4.0.0 | 6.84176E-07 | None | None | None | None | I | None | 0 | 2.23614E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| I/T | None | None | None | None | 0.209 | 0.178 | 0.329540904979 | gnomAD-4.0.0 | 2.05252E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 2.51902E-05 | None | 0 | 0 | 1.79888E-06 | 0 | 0 |
| I/V | rs770782767 |
-0.464 | None | None | 0.177 | 0.133 | 0.0884992946249 | gnomAD-2.1.1 | 2.85E-05 | None | None | None | None | I | None | 4.13E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 5.45E-05 | 0 |
| I/V | rs770782767 |
-0.464 | None | None | 0.177 | 0.133 | 0.0884992946249 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 4.41E-05 | 0 | 0 |
| I/V | rs770782767 |
-0.464 | None | None | 0.177 | 0.133 | 0.0884992946249 | gnomAD-4.0.0 | 4.70932E-05 | None | None | None | None | I | None | 1.33469E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 6.18732E-05 | 0 | 3.20195E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.1176 | likely_benign | 0.1085 | benign | -1.115 | Destabilizing | None | N | 0.193 | neutral | None | None | None | None | I |
| I/C | 0.4406 | ambiguous | 0.4287 | ambiguous | -0.636 | Destabilizing | 0.132 | N | 0.304 | neutral | None | None | None | None | I |
| I/D | 0.3046 | likely_benign | 0.3128 | benign | -0.616 | Destabilizing | 0.002 | N | 0.438 | neutral | None | None | None | None | I |
| I/E | 0.195 | likely_benign | 0.204 | benign | -0.661 | Destabilizing | 0.002 | N | 0.374 | neutral | None | None | None | None | I |
| I/F | 0.1284 | likely_benign | 0.1111 | benign | -0.856 | Destabilizing | 0.021 | N | 0.234 | neutral | None | None | None | None | I |
| I/G | 0.343 | ambiguous | 0.3236 | benign | -1.357 | Destabilizing | 0.002 | N | 0.376 | neutral | None | None | None | None | I |
| I/H | 0.2436 | likely_benign | 0.2397 | benign | -0.541 | Destabilizing | 0.132 | N | 0.453 | neutral | None | None | None | None | I |
| I/K | 0.1368 | likely_benign | 0.1371 | benign | -0.716 | Destabilizing | None | N | 0.212 | neutral | None | None | None | None | I |
| I/L | 0.0924 | likely_benign | 0.0882 | benign | -0.564 | Destabilizing | None | N | 0.177 | neutral | None | None | None | None | I |
| I/M | 0.0648 | likely_benign | 0.062 | benign | -0.474 | Destabilizing | None | N | 0.185 | neutral | None | None | None | None | I |
| I/N | 0.1153 | likely_benign | 0.1221 | benign | -0.528 | Destabilizing | None | N | 0.223 | neutral | None | None | None | None | I |
| I/P | 0.9037 | likely_pathogenic | 0.8656 | pathogenic | -0.715 | Destabilizing | 0.018 | N | 0.452 | neutral | None | None | None | None | I |
| I/Q | 0.1563 | likely_benign | 0.1605 | benign | -0.73 | Destabilizing | None | N | 0.217 | neutral | None | None | None | None | I |
| I/R | 0.1035 | likely_benign | 0.0995 | benign | -0.099 | Destabilizing | None | N | 0.207 | neutral | None | None | None | None | I |
| I/S | 0.1215 | likely_benign | 0.1205 | benign | -1.02 | Destabilizing | 0.001 | N | 0.345 | neutral | None | None | None | None | I |
| I/T | 0.0686 | likely_benign | 0.0666 | benign | -0.954 | Destabilizing | None | N | 0.209 | neutral | None | None | None | None | I |
| I/V | 0.0596 | likely_benign | 0.0587 | benign | -0.715 | Destabilizing | None | N | 0.177 | neutral | None | None | None | None | I |
| I/W | 0.5619 | ambiguous | 0.5049 | ambiguous | -0.902 | Destabilizing | 0.316 | N | 0.369 | neutral | None | None | None | None | I |
| I/Y | 0.3449 | ambiguous | 0.3365 | benign | -0.676 | Destabilizing | 0.041 | N | 0.417 | neutral | None | None | None | None | I |
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.