Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 6729 | 20410;20411;20412 | chr2:178727180;178727179;178727178 | chr2:179591907;179591906;179591905 |
| N2AB | 6412 | 19459;19460;19461 | chr2:178727180;178727179;178727178 | chr2:179591907;179591906;179591905 |
| N2A | 5485 | 16678;16679;16680 | chr2:178727180;178727179;178727178 | chr2:179591907;179591906;179591905 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/D | rs794729619  |
0.278 | 0.004 | N | 0.218 | 0.048 | 0.0954503805726 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| N/D | rs794729619 |
0.278 | 0.004 | N | 0.218 | 0.048 | 0.0954503805726 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| N/D | rs794729619 |
0.278 | 0.004 | N | 0.218 | 0.048 | 0.0954503805726 | gnomAD-4.0.0 | 1.85971E-06 | None | None | None | None | N | None | 0 | 5.003E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| N/H | rs794729619 |
None | None | N | 0.187 | 0.094 | 0.126345400529 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| N/H | rs794729619 |
None | None | N | 0.187 | 0.094 | 0.126345400529 | gnomAD-4.0.0 | 1.23981E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.69572E-06 | 0 | 0 |
| N/S | rs1337506969 |
None | None | N | 0.097 | 0.08 | 0.0551355673512 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| N/S | rs1337506969 |
None | None | N | 0.097 | 0.08 | 0.0551355673512 | gnomAD-4.0.0 | 6.57428E-06 | None | None | None | None | N | None | 0 | 6.55308E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/A | 0.1354 | likely_benign | 0.1432 | benign | -0.415 | Destabilizing | 0.001 | N | 0.211 | neutral | None | None | None | None | N |
| N/C | 0.2289 | likely_benign | 0.2262 | benign | 0.427 | Stabilizing | 0.683 | D | 0.301 | neutral | None | None | None | None | N |
| N/D | 0.0724 | likely_benign | 0.0734 | benign | 0.052 | Stabilizing | 0.004 | N | 0.218 | neutral | N | 0.477719897 | None | None | N |
| N/E | 0.1923 | likely_benign | 0.1989 | benign | 0.003 | Stabilizing | 0.007 | N | 0.189 | neutral | None | None | None | None | N |
| N/F | 0.2857 | likely_benign | 0.2818 | benign | -0.89 | Destabilizing | 0.126 | N | 0.421 | neutral | None | None | None | None | N |
| N/G | 0.1488 | likely_benign | 0.1303 | benign | -0.556 | Destabilizing | 0.038 | N | 0.189 | neutral | None | None | None | None | N |
| N/H | 0.0732 | likely_benign | 0.0724 | benign | -0.692 | Destabilizing | None | N | 0.187 | neutral | N | 0.468813301 | None | None | N |
| N/I | 0.1886 | likely_benign | 0.2081 | benign | -0.13 | Destabilizing | 0.075 | N | 0.417 | neutral | N | 0.499287819 | None | None | N |
| N/K | 0.1617 | likely_benign | 0.1757 | benign | 0.245 | Stabilizing | 0.001 | N | 0.165 | neutral | N | 0.502655627 | None | None | N |
| N/L | 0.1712 | likely_benign | 0.182 | benign | -0.13 | Destabilizing | 0.022 | N | 0.339 | neutral | None | None | None | None | N |
| N/M | 0.253 | likely_benign | 0.2622 | benign | 0.446 | Stabilizing | 0.433 | N | 0.307 | neutral | None | None | None | None | N |
| N/P | 0.5552 | ambiguous | 0.6009 | pathogenic | -0.201 | Destabilizing | 0.023 | N | 0.385 | neutral | None | None | None | None | N |
| N/Q | 0.1706 | likely_benign | 0.172 | benign | -0.271 | Destabilizing | 0.001 | N | 0.127 | neutral | None | None | None | None | N |
| N/R | 0.1626 | likely_benign | 0.1765 | benign | 0.327 | Stabilizing | 0.056 | N | 0.183 | neutral | None | None | None | None | N |
| N/S | 0.0682 | likely_benign | 0.0696 | benign | 0.002 | Stabilizing | None | N | 0.097 | neutral | N | 0.469620488 | None | None | N |
| N/T | 0.1043 | likely_benign | 0.1167 | benign | 0.089 | Stabilizing | 0.006 | N | 0.199 | neutral | N | 0.465027865 | None | None | N |
| N/V | 0.1869 | likely_benign | 0.2037 | benign | -0.201 | Destabilizing | 0.009 | N | 0.387 | neutral | None | None | None | None | N |
| N/W | 0.5571 | ambiguous | 0.5413 | ambiguous | -0.856 | Destabilizing | 0.885 | D | 0.303 | neutral | None | None | None | None | N |
| N/Y | 0.0997 | likely_benign | 0.0976 | benign | -0.582 | Destabilizing | 0.001 | N | 0.181 | neutral | N | 0.49878084 | 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.