Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 5615 | 17068;17069;17070 | chr2:178732126;178732125;178732124 | chr2:179596853;179596852;179596851 |
| N2AB | 5298 | 16117;16118;16119 | chr2:178732126;178732125;178732124 | chr2:179596853;179596852;179596851 |
| N2A | 4371 | 13336;13337;13338 | chr2:178732126;178732125;178732124 | chr2:179596853;179596852;179596851 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| M/I | None | None | 0.001 | N | 0.21 | 0.164 | 0.29132392195 | 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 |
| M/L | rs1392126225  |
None | 0.001 | N | 0.185 | 0.154 | 0.429666569261 | gnomAD-4.0.0 | 1.59146E-06 | None | None | None | None | N | None | 5.65675E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| M/T | rs760133132 |
-1.192 | 0.01 | N | 0.379 | 0.284 | None | gnomAD-2.1.1 | 1.61E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 3.56E-05 | 0 |
| M/T | rs760133132 |
-1.192 | 0.01 | N | 0.379 | 0.284 | None | gnomAD-3.1.2 | 3.94E-05 | None | None | None | None | N | None | 4.82E-05 | 0 | 0 | 0 | 0 | None | 9.42E-05 | 0 | 4.41E-05 | 0 | 0 |
| M/T | rs760133132 |
-1.192 | 0.01 | N | 0.379 | 0.284 | None | gnomAD-4.0.0 | 1.23944E-05 | None | None | None | None | N | None | 4.00416E-05 | 0 | None | 0 | 0 | None | 1.56226E-05 | 0 | 1.35624E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| M/A | 0.2413 | likely_benign | 0.2515 | benign | -2.505 | Highly Destabilizing | 0.176 | N | 0.491 | neutral | None | None | None | None | N |
| M/C | 0.5856 | likely_pathogenic | 0.5623 | ambiguous | -2.074 | Highly Destabilizing | 0.981 | D | 0.602 | neutral | None | None | None | None | N |
| M/D | 0.6756 | likely_pathogenic | 0.7009 | pathogenic | -2.012 | Highly Destabilizing | 0.828 | D | 0.633 | neutral | None | None | None | None | N |
| M/E | 0.3452 | ambiguous | 0.3608 | ambiguous | -1.844 | Destabilizing | 0.828 | D | 0.618 | neutral | None | None | None | None | N |
| M/F | 0.2609 | likely_benign | 0.2481 | benign | -1.05 | Destabilizing | 0.704 | D | 0.521 | neutral | None | None | None | None | N |
| M/G | 0.3959 | ambiguous | 0.4248 | ambiguous | -2.927 | Highly Destabilizing | 0.828 | D | 0.615 | neutral | None | None | None | None | N |
| M/H | 0.3075 | likely_benign | 0.2963 | benign | -2.329 | Highly Destabilizing | 0.981 | D | 0.631 | neutral | None | None | None | None | N |
| M/I | 0.2276 | likely_benign | 0.2246 | benign | -1.31 | Destabilizing | 0.001 | N | 0.21 | neutral | N | 0.361988804 | None | None | N |
| M/K | 0.1473 | likely_benign | 0.1401 | benign | -1.484 | Destabilizing | 0.784 | D | 0.574 | neutral | N | 0.40050712 | None | None | N |
| M/L | 0.1209 | likely_benign | 0.1246 | benign | -1.31 | Destabilizing | 0.001 | N | 0.185 | neutral | N | 0.420439675 | None | None | N |
| M/N | 0.3628 | ambiguous | 0.3757 | ambiguous | -1.644 | Destabilizing | 0.828 | D | 0.649 | neutral | None | None | None | None | N |
| M/P | 0.9677 | likely_pathogenic | 0.972 | pathogenic | -1.69 | Destabilizing | 0.936 | D | 0.638 | neutral | None | None | None | None | N |
| M/Q | 0.1707 | likely_benign | 0.1635 | benign | -1.486 | Destabilizing | 0.936 | D | 0.549 | neutral | None | None | None | None | N |
| M/R | 0.1277 | likely_benign | 0.1224 | benign | -1.338 | Destabilizing | 0.784 | D | 0.611 | neutral | N | 0.399987045 | None | None | N |
| M/S | 0.1997 | likely_benign | 0.204 | benign | -2.259 | Highly Destabilizing | 0.329 | N | 0.533 | neutral | None | None | None | None | N |
| M/T | 0.1006 | likely_benign | 0.0993 | benign | -1.981 | Destabilizing | 0.01 | N | 0.379 | neutral | N | 0.298550614 | None | None | N |
| M/V | 0.0791 | likely_benign | 0.0766 | benign | -1.69 | Destabilizing | 0.001 | N | 0.212 | neutral | N | 0.355620192 | None | None | N |
| M/W | 0.4932 | ambiguous | 0.4824 | ambiguous | -1.261 | Destabilizing | 0.995 | D | 0.611 | neutral | None | None | None | None | N |
| M/Y | 0.4438 | ambiguous | 0.4289 | ambiguous | -1.307 | Destabilizing | 0.936 | D | 0.627 | 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.