Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 5367 | 16324;16325;16326 | chr2:178733077;178733076;178733075 | chr2:179597804;179597803;179597802 |
| N2AB | 5050 | 15373;15374;15375 | chr2:178733077;178733076;178733075 | chr2:179597804;179597803;179597802 |
| N2A | 4123 | 12592;12593;12594 | chr2:178733077;178733076;178733075 | chr2:179597804;179597803;179597802 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | rs751854907  |
0.061 | 0.001 | N | 0.315 | 0.217 | 0.288727942641 | gnomAD-2.1.1 | 4.08E-06 | None | None | None | None | I | None | 0 | 2.95E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| D/A | rs751854907 |
0.061 | 0.001 | N | 0.315 | 0.217 | 0.288727942641 | gnomAD-4.0.0 | 1.37336E-06 | None | None | None | None | I | None | 0 | 2.25611E-05 | None | 0 | 0 | None | 0 | 0 | 9.02037E-07 | 0 | 0 |
| D/G | rs751854907 |
-0.129 | 0.124 | N | 0.461 | 0.226 | 0.193865811164 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.48E-05 | 0 |
| D/G | rs751854907 |
-0.129 | 0.124 | N | 0.461 | 0.226 | 0.193865811164 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| D/G | rs751854907 |
-0.129 | 0.124 | N | 0.461 | 0.226 | 0.193865811164 | gnomAD-4.0.0 | 3.10859E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.24939E-06 | 0 | 0 |
| D/N | None | None | 0.002 | N | 0.254 | 0.202 | 0.211220785272 | gnomAD-4.0.0 | 1.60627E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.88722E-06 | 0 | 0 |
| D/Y | rs1438312782 |
0.297 | 0.667 | N | 0.643 | 0.345 | 0.640272089493 | gnomAD-2.1.1 | 4.1E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 9.03E-06 | 0 |
| D/Y | rs1438312782 |
0.297 | 0.667 | N | 0.643 | 0.345 | 0.640272089493 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| D/Y | rs1438312782 |
0.297 | 0.667 | N | 0.643 | 0.345 | 0.640272089493 | gnomAD-4.0.0 | 3.87239E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 7.23966E-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 | 0.127 | likely_benign | 0.1253 | benign | -0.276 | Destabilizing | 0.001 | N | 0.315 | neutral | N | 0.419752681 | None | None | I |
| D/C | 0.5535 | ambiguous | 0.5064 | ambiguous | -0.079 | Destabilizing | 0.909 | D | 0.683 | prob.neutral | None | None | None | None | I |
| D/E | 0.128 | likely_benign | 0.1309 | benign | -0.371 | Destabilizing | 0.004 | N | 0.238 | neutral | N | 0.398086543 | None | None | I |
| D/F | 0.4211 | ambiguous | 0.4141 | ambiguous | -0.088 | Destabilizing | 0.726 | D | 0.643 | neutral | None | None | None | None | I |
| D/G | 0.1506 | likely_benign | 0.1447 | benign | -0.493 | Destabilizing | 0.124 | N | 0.461 | neutral | N | 0.470432218 | None | None | I |
| D/H | 0.187 | likely_benign | 0.1879 | benign | 0.106 | Stabilizing | 0.788 | D | 0.467 | neutral | N | 0.429124313 | None | None | I |
| D/I | 0.2367 | likely_benign | 0.2238 | benign | 0.252 | Stabilizing | 0.567 | D | 0.633 | neutral | None | None | None | None | I |
| D/K | 0.248 | likely_benign | 0.248 | benign | 0.33 | Stabilizing | 0.157 | N | 0.44 | neutral | None | None | None | None | I |
| D/L | 0.2727 | likely_benign | 0.2576 | benign | 0.252 | Stabilizing | 0.396 | N | 0.576 | neutral | None | None | None | None | I |
| D/M | 0.4822 | ambiguous | 0.4714 | ambiguous | 0.296 | Stabilizing | 0.909 | D | 0.637 | neutral | None | None | None | None | I |
| D/N | 0.0785 | likely_benign | 0.0781 | benign | -0.116 | Destabilizing | 0.002 | N | 0.254 | neutral | N | 0.441360104 | None | None | I |
| D/P | 0.4671 | ambiguous | 0.4596 | ambiguous | 0.099 | Stabilizing | 0.567 | D | 0.465 | neutral | None | None | None | None | I |
| D/Q | 0.2282 | likely_benign | 0.2283 | benign | -0.07 | Destabilizing | 0.567 | D | 0.413 | neutral | None | None | None | None | I |
| D/R | 0.2606 | likely_benign | 0.2596 | benign | 0.541 | Stabilizing | 0.567 | D | 0.573 | neutral | None | None | None | None | I |
| D/S | 0.1013 | likely_benign | 0.1011 | benign | -0.201 | Destabilizing | 0.157 | N | 0.447 | neutral | None | None | None | None | I |
| D/T | 0.1685 | likely_benign | 0.1677 | benign | -0.026 | Destabilizing | 0.157 | N | 0.438 | neutral | None | None | None | None | I |
| D/V | 0.1425 | likely_benign | 0.1342 | benign | 0.099 | Stabilizing | 0.331 | N | 0.568 | neutral | N | 0.417461737 | None | None | I |
| D/W | 0.8095 | likely_pathogenic | 0.806 | pathogenic | 0.08 | Stabilizing | 0.968 | D | 0.708 | prob.delet. | None | None | None | None | I |
| D/Y | 0.1681 | likely_benign | 0.1633 | benign | 0.163 | Stabilizing | 0.667 | D | 0.643 | neutral | N | 0.453539968 | 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.