Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29804 | 89635;89636;89637 | chr2:178553595;178553594;178553593 | chr2:179418322;179418321;179418320 |
| N2AB | 28163 | 84712;84713;84714 | chr2:178553595;178553594;178553593 | chr2:179418322;179418321;179418320 |
| N2A | 27236 | 81931;81932;81933 | chr2:178553595;178553594;178553593 | chr2:179418322;179418321;179418320 |
| N2B | 20739 | 62440;62441;62442 | chr2:178553595;178553594;178553593 | chr2:179418322;179418321;179418320 |
| Novex-1 | 20864 | 62815;62816;62817 | chr2:178553595;178553594;178553593 | chr2:179418322;179418321;179418320 |
| Novex-2 | 20931 | 63016;63017;63018 | chr2:178553595;178553594;178553593 | chr2:179418322;179418321;179418320 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | rs776305807  |
-1.608 | 0.027 | N | 0.359 | 0.096 | 0.379193981924 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 9.81E-05 | None | 0 | 0 | 0 |
| V/A | rs776305807 |
-1.608 | 0.027 | N | 0.359 | 0.096 | 0.379193981924 | gnomAD-4.0.0 | 2.05259E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 3.4781E-05 | 0 |
| V/G | rs776305807 |
None | 0.117 | N | 0.455 | 0.195 | 0.663239856763 | gnomAD-4.0.0 | 2.73679E-06 | None | None | None | None | N | None | 8.96111E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 1.65656E-05 |
| V/I | rs747784568 |
-0.567 | None | N | 0.123 | 0.084 | 0.260249123532 | gnomAD-2.1.1 | 2.41E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.96104E-04 | None | 0 | 0 | 0 |
| V/I | rs747784568 |
-0.567 | None | N | 0.123 | 0.084 | 0.260249123532 | gnomAD-4.0.0 | 1.71049E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.6666E-04 | 3.31312E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.1442 | likely_benign | 0.1415 | benign | -1.596 | Destabilizing | 0.027 | N | 0.359 | neutral | N | 0.419258744 | None | None | N |
| V/C | 0.5716 | likely_pathogenic | 0.5788 | pathogenic | -0.945 | Destabilizing | 0.935 | D | 0.379 | neutral | None | None | None | None | N |
| V/D | 0.2153 | likely_benign | 0.207 | benign | -1.46 | Destabilizing | 0.317 | N | 0.497 | neutral | N | 0.469034203 | None | None | N |
| V/E | 0.1562 | likely_benign | 0.1596 | benign | -1.449 | Destabilizing | 0.149 | N | 0.412 | neutral | None | None | None | None | N |
| V/F | 0.1548 | likely_benign | 0.1495 | benign | -1.24 | Destabilizing | 0.317 | N | 0.403 | neutral | N | 0.475750104 | None | None | N |
| V/G | 0.1665 | likely_benign | 0.1635 | benign | -1.933 | Destabilizing | 0.117 | N | 0.455 | neutral | N | 0.449544365 | None | None | N |
| V/H | 0.4222 | ambiguous | 0.4335 | ambiguous | -1.46 | Destabilizing | 0.935 | D | 0.468 | neutral | None | None | None | None | N |
| V/I | 0.0704 | likely_benign | 0.0709 | benign | -0.761 | Destabilizing | None | N | 0.123 | neutral | N | 0.446677419 | None | None | N |
| V/K | 0.2138 | likely_benign | 0.2193 | benign | -1.236 | Destabilizing | 0.149 | N | 0.432 | neutral | None | None | None | None | N |
| V/L | 0.1603 | likely_benign | 0.1598 | benign | -0.761 | Destabilizing | 0.009 | N | 0.341 | neutral | N | 0.468860845 | None | None | N |
| V/M | 0.1099 | likely_benign | 0.1084 | benign | -0.52 | Destabilizing | 0.38 | N | 0.389 | neutral | None | None | None | None | N |
| V/N | 0.1517 | likely_benign | 0.1583 | benign | -1.02 | Destabilizing | 0.38 | N | 0.499 | neutral | None | None | None | None | N |
| V/P | 0.8162 | likely_pathogenic | 0.7946 | pathogenic | -1.005 | Destabilizing | 0.791 | D | 0.447 | neutral | None | None | None | None | N |
| V/Q | 0.2006 | likely_benign | 0.2072 | benign | -1.193 | Destabilizing | 0.555 | D | 0.443 | neutral | None | None | None | None | N |
| V/R | 0.2225 | likely_benign | 0.2306 | benign | -0.705 | Destabilizing | 0.555 | D | 0.489 | neutral | None | None | None | None | N |
| V/S | 0.1423 | likely_benign | 0.1497 | benign | -1.551 | Destabilizing | 0.007 | N | 0.262 | neutral | None | None | None | None | N |
| V/T | 0.1236 | likely_benign | 0.1264 | benign | -1.43 | Destabilizing | 0.001 | N | 0.106 | neutral | None | None | None | None | N |
| V/W | 0.7463 | likely_pathogenic | 0.724 | pathogenic | -1.446 | Destabilizing | 0.935 | D | 0.535 | neutral | None | None | None | None | N |
| V/Y | 0.417 | ambiguous | 0.4083 | ambiguous | -1.155 | Destabilizing | 0.555 | D | 0.395 | 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.