Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 21198 | 63817;63818;63819 | chr2:178587717;178587716;178587715 | chr2:179452444;179452443;179452442 |
| N2AB | 19557 | 58894;58895;58896 | chr2:178587717;178587716;178587715 | chr2:179452444;179452443;179452442 |
| N2A | 18630 | 56113;56114;56115 | chr2:178587717;178587716;178587715 | chr2:179452444;179452443;179452442 |
| N2B | 12133 | 36622;36623;36624 | chr2:178587717;178587716;178587715 | chr2:179452444;179452443;179452442 |
| Novex-1 | 12258 | 36997;36998;36999 | chr2:178587717;178587716;178587715 | chr2:179452444;179452443;179452442 |
| Novex-2 | 12325 | 37198;37199;37200 | chr2:178587717;178587716;178587715 | chr2:179452444;179452443;179452442 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | None | None | 0.78 | N | 0.648 | 0.496 | 0.699911873028 | gnomAD-4.0.0 | 1.59332E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43406E-05 | 0 |
| V/G | rs1559553614  |
None | 0.995 | D | 0.837 | 0.653 | 0.88472872791 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.92E-06 | 0 |
| V/G | rs1559553614 |
None | 0.995 | D | 0.837 | 0.653 | 0.88472872791 | gnomAD-4.0.0 | 1.59332E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86125E-06 | 0 | 0 |
| V/L | None | None | 0.437 | D | 0.461 | 0.36 | 0.552085806491 | gnomAD-4.0.0 | 6.84584E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 1.8742E-05 | 0 | 0 | 0 | 0 |
| V/M | None | None | 0.968 | D | 0.704 | 0.596 | 0.69131558434 | gnomAD-4.0.0 | 6.84584E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99769E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.6278 | likely_pathogenic | 0.6151 | pathogenic | -1.323 | Destabilizing | 0.78 | D | 0.648 | neutral | N | 0.521024114 | None | None | I |
| V/C | 0.8001 | likely_pathogenic | 0.7931 | pathogenic | -1.036 | Destabilizing | 0.999 | D | 0.753 | deleterious | None | None | None | None | I |
| V/D | 0.9858 | likely_pathogenic | 0.9798 | pathogenic | -0.92 | Destabilizing | 0.996 | D | 0.846 | deleterious | None | None | None | None | I |
| V/E | 0.9577 | likely_pathogenic | 0.9459 | pathogenic | -0.868 | Destabilizing | 0.995 | D | 0.813 | deleterious | D | 0.61408936 | None | None | I |
| V/F | 0.4243 | ambiguous | 0.3559 | ambiguous | -0.842 | Destabilizing | 0.976 | D | 0.794 | deleterious | None | None | None | None | I |
| V/G | 0.7551 | likely_pathogenic | 0.7385 | pathogenic | -1.674 | Destabilizing | 0.995 | D | 0.837 | deleterious | D | 0.588551248 | None | None | I |
| V/H | 0.9628 | likely_pathogenic | 0.9536 | pathogenic | -1.041 | Destabilizing | 0.999 | D | 0.833 | deleterious | None | None | None | None | I |
| V/I | 0.0906 | likely_benign | 0.0835 | benign | -0.447 | Destabilizing | 0.015 | N | 0.21 | neutral | None | None | None | None | I |
| V/K | 0.9568 | likely_pathogenic | 0.9464 | pathogenic | -1.155 | Destabilizing | 0.988 | D | 0.815 | deleterious | None | None | None | None | I |
| V/L | 0.345 | ambiguous | 0.2929 | benign | -0.447 | Destabilizing | 0.437 | N | 0.461 | neutral | D | 0.545177537 | None | None | I |
| V/M | 0.3968 | ambiguous | 0.3514 | ambiguous | -0.523 | Destabilizing | 0.968 | D | 0.704 | prob.neutral | D | 0.588147639 | None | None | I |
| V/N | 0.9454 | likely_pathogenic | 0.929 | pathogenic | -1.089 | Destabilizing | 0.996 | D | 0.837 | deleterious | None | None | None | None | I |
| V/P | 0.9362 | likely_pathogenic | 0.9174 | pathogenic | -0.705 | Destabilizing | 0.996 | D | 0.804 | deleterious | None | None | None | None | I |
| V/Q | 0.9244 | likely_pathogenic | 0.9094 | pathogenic | -1.132 | Destabilizing | 0.996 | D | 0.811 | deleterious | None | None | None | None | I |
| V/R | 0.9316 | likely_pathogenic | 0.9125 | pathogenic | -0.746 | Destabilizing | 0.996 | D | 0.837 | deleterious | None | None | None | None | I |
| V/S | 0.8026 | likely_pathogenic | 0.7825 | pathogenic | -1.663 | Destabilizing | 0.988 | D | 0.802 | deleterious | None | None | None | None | I |
| V/T | 0.6892 | likely_pathogenic | 0.6731 | pathogenic | -1.477 | Destabilizing | 0.919 | D | 0.666 | neutral | None | None | None | None | I |
| V/W | 0.9616 | likely_pathogenic | 0.948 | pathogenic | -1.038 | Destabilizing | 0.999 | D | 0.812 | deleterious | None | None | None | None | I |
| V/Y | 0.875 | likely_pathogenic | 0.8384 | pathogenic | -0.73 | Destabilizing | 0.996 | D | 0.772 | deleterious | 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.