Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 1458 | 4597;4598;4599 | chr2:178777812;178777811;178777810 | chr2:179642539;179642538;179642537 |
| N2AB | 1458 | 4597;4598;4599 | chr2:178777812;178777811;178777810 | chr2:179642539;179642538;179642537 |
| N2A | 1458 | 4597;4598;4599 | chr2:178777812;178777811;178777810 | chr2:179642539;179642538;179642537 |
| N2B | 1412 | 4459;4460;4461 | chr2:178777812;178777811;178777810 | chr2:179642539;179642538;179642537 |
| Novex-1 | 1412 | 4459;4460;4461 | chr2:178777812;178777811;178777810 | chr2:179642539;179642538;179642537 |
| Novex-2 | 1412 | 4459;4460;4461 | chr2:178777812;178777811;178777810 | chr2:179642539;179642538;179642537 |
| Novex-3 | 1458 | 4597;4598;4599 | chr2:178777812;178777811;178777810 | chr2:179642539;179642538;179642537 |
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/D | None | None | 1.0 | N | 0.768 | 0.691 | 0.880924136359 | gnomAD-4.0.0 | 1.36822E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79868E-06 | 0 | 0 |
| V/G | rs1164246536  |
-0.8 | 1.0 | D | 0.742 | 0.588 | 0.920042922032 | 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 |
| V/G | rs1164246536 |
-0.8 | 1.0 | D | 0.742 | 0.588 | 0.920042922032 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | I | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| V/G | rs1164246536 |
-0.8 | 1.0 | D | 0.742 | 0.588 | 0.920042922032 | gnomAD-4.0.0 | 4.33734E-06 | None | None | None | None | I | None | 1.33543E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 4.23743E-06 | 0 | 1.60046E-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 | 0.5534 | ambiguous | 0.5219 | ambiguous | -0.733 | Destabilizing | 0.999 | D | 0.507 | neutral | N | 0.510194598 | None | None | I |
| V/C | 0.9515 | likely_pathogenic | 0.9495 | pathogenic | -0.801 | Destabilizing | 1.0 | D | 0.698 | prob.neutral | None | None | None | None | I |
| V/D | 0.9241 | likely_pathogenic | 0.9174 | pathogenic | -0.255 | Destabilizing | 1.0 | D | 0.768 | deleterious | N | 0.513893956 | None | None | I |
| V/E | 0.7723 | likely_pathogenic | 0.7683 | pathogenic | -0.26 | Destabilizing | 1.0 | D | 0.727 | prob.delet. | None | None | None | None | I |
| V/F | 0.5302 | ambiguous | 0.4857 | ambiguous | -0.477 | Destabilizing | 1.0 | D | 0.732 | prob.delet. | N | 0.515973776 | None | None | I |
| V/G | 0.7516 | likely_pathogenic | 0.7269 | pathogenic | -0.978 | Destabilizing | 1.0 | D | 0.742 | deleterious | D | 0.560708231 | None | None | I |
| V/H | 0.9172 | likely_pathogenic | 0.9055 | pathogenic | -0.241 | Destabilizing | 1.0 | D | 0.767 | deleterious | None | None | None | None | I |
| V/I | 0.1126 | likely_benign | 0.1041 | benign | -0.182 | Destabilizing | 0.997 | D | 0.44 | neutral | N | 0.51258258 | None | None | I |
| V/K | 0.7851 | likely_pathogenic | 0.7766 | pathogenic | -0.606 | Destabilizing | 1.0 | D | 0.731 | prob.delet. | None | None | None | None | I |
| V/L | 0.4598 | ambiguous | 0.4107 | ambiguous | -0.182 | Destabilizing | 0.997 | D | 0.485 | neutral | N | 0.5068163 | None | None | I |
| V/M | 0.3561 | ambiguous | 0.3189 | benign | -0.465 | Destabilizing | 1.0 | D | 0.671 | neutral | None | None | None | None | I |
| V/N | 0.7856 | likely_pathogenic | 0.7471 | pathogenic | -0.608 | Destabilizing | 1.0 | D | 0.775 | deleterious | None | None | None | None | I |
| V/P | 0.9888 | likely_pathogenic | 0.9878 | pathogenic | -0.331 | Destabilizing | 1.0 | D | 0.733 | prob.delet. | None | None | None | None | I |
| V/Q | 0.6984 | likely_pathogenic | 0.6785 | pathogenic | -0.685 | Destabilizing | 1.0 | D | 0.745 | deleterious | None | None | None | None | I |
| V/R | 0.6937 | likely_pathogenic | 0.691 | pathogenic | -0.181 | Destabilizing | 1.0 | D | 0.774 | deleterious | None | None | None | None | I |
| V/S | 0.6464 | likely_pathogenic | 0.6169 | pathogenic | -1.095 | Destabilizing | 1.0 | D | 0.725 | prob.delet. | None | None | None | None | I |
| V/T | 0.5395 | ambiguous | 0.5124 | ambiguous | -0.978 | Destabilizing | 0.999 | D | 0.619 | neutral | None | None | None | None | I |
| V/W | 0.9888 | likely_pathogenic | 0.986 | pathogenic | -0.621 | Destabilizing | 1.0 | D | 0.778 | deleterious | None | None | None | None | I |
| V/Y | 0.9074 | likely_pathogenic | 0.8931 | pathogenic | -0.311 | Destabilizing | 1.0 | D | 0.733 | prob.delet. | 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.