Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31897 | 95914;95915;95916 | chr2:178545421;178545420;178545419 | chr2:179410148;179410147;179410146 |
| N2AB | 30256 | 90991;90992;90993 | chr2:178545421;178545420;178545419 | chr2:179410148;179410147;179410146 |
| N2A | 29329 | 88210;88211;88212 | chr2:178545421;178545420;178545419 | chr2:179410148;179410147;179410146 |
| N2B | 22832 | 68719;68720;68721 | chr2:178545421;178545420;178545419 | chr2:179410148;179410147;179410146 |
| Novex-1 | 22957 | 69094;69095;69096 | chr2:178545421;178545420;178545419 | chr2:179410148;179410147;179410146 |
| Novex-2 | 23024 | 69295;69296;69297 | chr2:178545421;178545420;178545419 | chr2:179410148;179410147;179410146 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/T | rs2555815  |
None | 0.518 | N | 0.605 | 0.064 | 0.130388298395 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/T | rs2555815 |
None | 0.518 | N | 0.605 | 0.064 | 0.130388298395 | gnomAD-4.0.0 | 2.63723E-06 | None | None | None | None | N | None | 1.70975E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 2.93341E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.4801 | ambiguous | 0.5304 | ambiguous | -0.847 | Destabilizing | 0.996 | D | 0.656 | prob.neutral | None | None | None | None | N |
| A/D | 0.5095 | ambiguous | 0.5233 | ambiguous | -0.866 | Destabilizing | 0.883 | D | 0.609 | neutral | N | 0.480404004 | None | None | N |
| A/E | 0.3381 | likely_benign | 0.3812 | ambiguous | -0.924 | Destabilizing | 0.909 | D | 0.609 | neutral | None | None | None | None | N |
| A/F | 0.4887 | ambiguous | 0.5093 | ambiguous | -1.111 | Destabilizing | 0.953 | D | 0.685 | prob.delet. | None | None | None | None | N |
| A/G | 0.2006 | likely_benign | 0.2038 | benign | -1.149 | Destabilizing | 0.518 | D | 0.581 | neutral | N | 0.473656055 | None | None | N |
| A/H | 0.6974 | likely_pathogenic | 0.719 | pathogenic | -1.228 | Destabilizing | 0.987 | D | 0.667 | prob.neutral | None | None | None | None | N |
| A/I | 0.2287 | likely_benign | 0.2584 | benign | -0.476 | Destabilizing | 0.953 | D | 0.603 | neutral | None | None | None | None | N |
| A/K | 0.7095 | likely_pathogenic | 0.7353 | pathogenic | -1.025 | Destabilizing | 0.833 | D | 0.605 | neutral | None | None | None | None | N |
| A/L | 0.2481 | likely_benign | 0.2766 | benign | -0.476 | Destabilizing | 0.74 | D | 0.619 | neutral | None | None | None | None | N |
| A/M | 0.2671 | likely_benign | 0.2959 | benign | -0.371 | Destabilizing | 0.996 | D | 0.611 | neutral | None | None | None | None | N |
| A/N | 0.377 | ambiguous | 0.4046 | ambiguous | -0.675 | Destabilizing | 0.833 | D | 0.675 | prob.neutral | None | None | None | None | N |
| A/P | 0.103 | likely_benign | 0.1054 | benign | -0.585 | Destabilizing | 0.015 | N | 0.576 | neutral | N | 0.375867752 | None | None | N |
| A/Q | 0.5014 | ambiguous | 0.542 | ambiguous | -0.877 | Destabilizing | 0.909 | D | 0.587 | neutral | None | None | None | None | N |
| A/R | 0.7142 | likely_pathogenic | 0.7321 | pathogenic | -0.659 | Destabilizing | 0.909 | D | 0.607 | neutral | None | None | None | None | N |
| A/S | 0.1213 | likely_benign | 0.1184 | benign | -1.056 | Destabilizing | 0.028 | N | 0.412 | neutral | N | 0.431473106 | None | None | N |
| A/T | 0.1179 | likely_benign | 0.1226 | benign | -1.02 | Destabilizing | 0.518 | D | 0.605 | neutral | N | 0.434801413 | None | None | N |
| A/V | 0.1333 | likely_benign | 0.1456 | benign | -0.585 | Destabilizing | 0.682 | D | 0.622 | neutral | N | 0.474050447 | None | None | N |
| A/W | 0.8785 | likely_pathogenic | 0.8741 | pathogenic | -1.366 | Destabilizing | 0.996 | D | 0.641 | neutral | None | None | None | None | N |
| A/Y | 0.6058 | likely_pathogenic | 0.6253 | pathogenic | -0.99 | Destabilizing | 0.984 | D | 0.697 | prob.delet. | 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.