Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 7847 | 23764;23765;23766 | chr2:178720103;178720102;178720101 | chr2:179584830;179584829;179584828 |
| N2AB | 7530 | 22813;22814;22815 | chr2:178720103;178720102;178720101 | chr2:179584830;179584829;179584828 |
| N2A | 6603 | 20032;20033;20034 | chr2:178720103;178720102;178720101 | chr2:179584830;179584829;179584828 |
| 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/T | rs2078114605  |
None | None | N | 0.135 | 0.12 | 0.346768085243 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| I/T | rs2078114605 |
None | None | N | 0.135 | 0.12 | 0.346768085243 | gnomAD-4.0.0 | 6.57108E-06 | None | None | None | None | I | None | 2.41196E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| I/V | rs1268176947 |
-0.115 | None | N | 0.091 | 0.194 | 0.158396225186 | gnomAD-2.1.1 | 8.04E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.89E-06 | 1.65782E-04 |
| I/V | rs1268176947 |
-0.115 | None | N | 0.091 | 0.194 | 0.158396225186 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| I/V | rs1268176947 |
-0.115 | None | N | 0.091 | 0.194 | 0.158396225186 | gnomAD-4.0.0 | 4.95762E-06 | None | None | None | None | I | None | 1.33469E-05 | 0 | None | 0 | 0 | None | 0 | 1.6442E-04 | 5.08596E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.1065 | likely_benign | 0.0858 | benign | -0.694 | Destabilizing | 0.002 | N | 0.233 | neutral | None | None | None | None | I |
| I/C | 0.5319 | ambiguous | 0.4042 | ambiguous | -0.681 | Destabilizing | 0.245 | N | 0.282 | neutral | None | None | None | None | I |
| I/D | 0.279 | likely_benign | 0.1885 | benign | 0.102 | Stabilizing | None | N | 0.158 | neutral | None | None | None | None | I |
| I/E | 0.1835 | likely_benign | 0.1498 | benign | 0.047 | Stabilizing | None | N | 0.157 | neutral | None | None | None | None | I |
| I/F | 0.1154 | likely_benign | 0.0848 | benign | -0.514 | Destabilizing | 0.033 | N | 0.183 | neutral | N | 0.473856525 | None | None | I |
| I/G | 0.296 | likely_benign | 0.211 | benign | -0.89 | Destabilizing | 0.004 | N | 0.289 | neutral | None | None | None | None | I |
| I/H | 0.212 | likely_benign | 0.1622 | benign | -0.053 | Destabilizing | 0.245 | N | 0.439 | neutral | None | None | None | None | I |
| I/K | 0.1312 | likely_benign | 0.1135 | benign | -0.34 | Destabilizing | 0.004 | N | 0.327 | neutral | None | None | None | None | I |
| I/L | 0.0893 | likely_benign | 0.0781 | benign | -0.287 | Destabilizing | None | N | 0.141 | neutral | N | 0.434452775 | None | None | I |
| I/M | 0.075 | likely_benign | 0.0682 | benign | -0.448 | Destabilizing | None | N | 0.112 | neutral | N | 0.492442286 | None | None | I |
| I/N | 0.1188 | likely_benign | 0.085 | benign | -0.232 | Destabilizing | 0.007 | N | 0.311 | neutral | N | 0.431719114 | None | None | I |
| I/P | 0.686 | likely_pathogenic | 0.5095 | ambiguous | -0.39 | Destabilizing | 0.037 | N | 0.369 | neutral | None | None | None | None | I |
| I/Q | 0.1445 | likely_benign | 0.1243 | benign | -0.377 | Destabilizing | 0.018 | N | 0.383 | neutral | None | None | None | None | I |
| I/R | 0.0975 | likely_benign | 0.0838 | benign | 0.156 | Stabilizing | 0.018 | N | 0.365 | neutral | None | None | None | None | I |
| I/S | 0.0979 | likely_benign | 0.0739 | benign | -0.758 | Destabilizing | None | N | 0.131 | neutral | N | 0.356125277 | None | None | I |
| I/T | 0.0664 | likely_benign | 0.0553 | benign | -0.697 | Destabilizing | None | N | 0.135 | neutral | N | 0.444570981 | None | None | I |
| I/V | 0.0644 | likely_benign | 0.0628 | benign | -0.39 | Destabilizing | None | N | 0.091 | neutral | N | 0.377906059 | None | None | I |
| I/W | 0.5312 | ambiguous | 0.413 | ambiguous | -0.539 | Destabilizing | 0.497 | N | 0.378 | neutral | None | None | None | None | I |
| I/Y | 0.3549 | ambiguous | 0.2663 | benign | -0.301 | Destabilizing | 0.085 | N | 0.36 | 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.