Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 9486 | 28681;28682;28683 | chr2:178710641;178710640;178710639 | chr2:179575368;179575367;179575366 |
| N2AB | 9169 | 27730;27731;27732 | chr2:178710641;178710640;178710639 | chr2:179575368;179575367;179575366 |
| N2A | 8242 | 24949;24950;24951 | chr2:178710641;178710640;178710639 | chr2:179575368;179575367;179575366 |
| 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 | rs746742751  |
-1.259 | 0.801 | None | 0.537 | 0.572 | 0.721999012854 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 2.91E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| I/T | rs746742751 |
-1.259 | 0.801 | None | 0.537 | 0.572 | 0.721999012854 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 6.54E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| I/T | rs746742751 |
-1.259 | 0.801 | None | 0.537 | 0.572 | 0.721999012854 | gnomAD-4.0.0 | 2.59688E-06 | None | None | None | None | N | None | 0 | 3.40657E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| I/V | rs1327402224 |
-1.081 | 0.002 | None | 0.321 | 0.121 | 0.294918367191 | gnomAD-2.1.1 | 7.16E-06 | None | None | None | None | N | None | 8.27E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| I/V | rs1327402224 |
-1.081 | 0.002 | None | 0.321 | 0.121 | 0.294918367191 | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | N | None | 9.65E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| I/V | rs1327402224 |
-1.081 | 0.002 | None | 0.321 | 0.121 | 0.294918367191 | gnomAD-4.0.0 | 2.62771E-05 | None | None | None | None | N | None | 9.64692E-05 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.5987 | likely_pathogenic | 0.716 | pathogenic | -2.203 | Highly Destabilizing | 0.029 | N | 0.443 | neutral | None | None | None | None | N |
| I/C | 0.8384 | likely_pathogenic | 0.859 | pathogenic | -1.429 | Destabilizing | 0.998 | D | 0.635 | neutral | None | None | None | None | N |
| I/D | 0.9529 | likely_pathogenic | 0.9685 | pathogenic | -1.797 | Destabilizing | 0.974 | D | 0.679 | prob.neutral | None | None | None | None | N |
| I/E | 0.8891 | likely_pathogenic | 0.9249 | pathogenic | -1.746 | Destabilizing | 0.974 | D | 0.671 | neutral | None | None | None | None | N |
| I/F | 0.4606 | ambiguous | 0.4359 | ambiguous | -1.527 | Destabilizing | 0.974 | D | 0.479 | neutral | None | None | None | None | N |
| I/G | 0.8578 | likely_pathogenic | 0.9114 | pathogenic | -2.591 | Highly Destabilizing | 0.842 | D | 0.655 | neutral | None | None | None | None | N |
| I/H | 0.8848 | likely_pathogenic | 0.9167 | pathogenic | -1.786 | Destabilizing | 0.998 | D | 0.692 | prob.neutral | None | None | None | None | N |
| I/K | 0.793 | likely_pathogenic | 0.8544 | pathogenic | -1.535 | Destabilizing | 0.966 | D | 0.671 | neutral | None | None | None | None | N |
| I/L | 0.1842 | likely_benign | 0.2004 | benign | -1.168 | Destabilizing | 0.267 | N | 0.437 | neutral | None | None | None | None | N |
| I/M | 0.1968 | likely_benign | 0.223 | benign | -0.929 | Destabilizing | 0.966 | D | 0.527 | neutral | None | None | None | None | N |
| I/N | 0.6336 | likely_pathogenic | 0.7364 | pathogenic | -1.401 | Destabilizing | 0.991 | D | 0.705 | prob.neutral | None | None | None | None | N |
| I/P | 0.8704 | likely_pathogenic | 0.9077 | pathogenic | -1.486 | Destabilizing | 0.974 | D | 0.683 | prob.neutral | None | None | None | None | N |
| I/Q | 0.8079 | likely_pathogenic | 0.8788 | pathogenic | -1.552 | Destabilizing | 0.991 | D | 0.698 | prob.neutral | None | None | None | None | N |
| I/R | 0.7234 | likely_pathogenic | 0.796 | pathogenic | -0.955 | Destabilizing | 0.966 | D | 0.702 | prob.neutral | None | None | None | None | N |
| I/S | 0.5998 | likely_pathogenic | 0.7111 | pathogenic | -2.09 | Highly Destabilizing | 0.728 | D | 0.596 | neutral | None | None | None | None | N |
| I/T | 0.4544 | ambiguous | 0.5356 | ambiguous | -1.919 | Destabilizing | 0.801 | D | 0.537 | neutral | None | None | None | None | N |
| I/V | 0.0862 | likely_benign | 0.0832 | benign | -1.486 | Destabilizing | 0.002 | N | 0.321 | neutral | None | None | None | None | N |
| I/W | 0.9515 | likely_pathogenic | 0.9456 | pathogenic | -1.634 | Destabilizing | 0.998 | D | 0.705 | prob.neutral | None | None | None | None | N |
| I/Y | 0.818 | likely_pathogenic | 0.8391 | pathogenic | -1.431 | Destabilizing | 0.991 | D | 0.623 | neutral | 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.