Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 17499 | 52720;52721;52722 | chr2:178608388;178608387;178608386 | chr2:179473115;179473114;179473113 |
| N2AB | 15858 | 47797;47798;47799 | chr2:178608388;178608387;178608386 | chr2:179473115;179473114;179473113 |
| N2A | 14931 | 45016;45017;45018 | chr2:178608388;178608387;178608386 | chr2:179473115;179473114;179473113 |
| N2B | 8434 | 25525;25526;25527 | chr2:178608388;178608387;178608386 | chr2:179473115;179473114;179473113 |
| Novex-1 | 8559 | 25900;25901;25902 | chr2:178608388;178608387;178608386 | chr2:179473115;179473114;179473113 |
| Novex-2 | 8626 | 26101;26102;26103 | chr2:178608388;178608387;178608386 | chr2:179473115;179473114;179473113 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/N | rs1293305339  |
None | 0.999 | N | 0.74 | 0.277 | 0.255777322467 | gnomAD-4.0.0 | 1.59857E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86886E-06 | 0 | 0 |
| S/R | rs774188747 |
-0.543 | 1.0 | N | 0.769 | 0.536 | 0.423480098753 | gnomAD-2.1.1 | 4.1E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 9.09E-06 | 0 |
| S/R | rs774188747 |
-0.543 | 1.0 | N | 0.769 | 0.536 | 0.423480098753 | gnomAD-4.0.0 | 6.85411E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.00408E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.29 | likely_benign | 0.2684 | benign | -0.517 | Destabilizing | 0.998 | D | 0.598 | neutral | None | None | None | None | I |
| S/C | 0.2319 | likely_benign | 0.2255 | benign | -0.35 | Destabilizing | 1.0 | D | 0.775 | deleterious | N | 0.485822054 | None | None | I |
| S/D | 0.9224 | likely_pathogenic | 0.9345 | pathogenic | -0.35 | Destabilizing | 0.999 | D | 0.76 | deleterious | None | None | None | None | I |
| S/E | 0.9509 | likely_pathogenic | 0.9549 | pathogenic | -0.407 | Destabilizing | 0.999 | D | 0.733 | prob.delet. | None | None | None | None | I |
| S/F | 0.6877 | likely_pathogenic | 0.7118 | pathogenic | -0.911 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | I |
| S/G | 0.5165 | ambiguous | 0.5115 | ambiguous | -0.701 | Destabilizing | 0.999 | D | 0.585 | neutral | N | 0.44926229 | None | None | I |
| S/H | 0.6885 | likely_pathogenic | 0.7153 | pathogenic | -1.277 | Destabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | I |
| S/I | 0.731 | likely_pathogenic | 0.7065 | pathogenic | -0.15 | Destabilizing | 1.0 | D | 0.803 | deleterious | N | 0.489038058 | None | None | I |
| S/K | 0.9656 | likely_pathogenic | 0.9702 | pathogenic | -0.712 | Destabilizing | 0.999 | D | 0.747 | deleterious | None | None | None | None | I |
| S/L | 0.3423 | ambiguous | 0.3293 | benign | -0.15 | Destabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | I |
| S/M | 0.5527 | ambiguous | 0.5346 | ambiguous | 0.254 | Stabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | I |
| S/N | 0.4797 | ambiguous | 0.4782 | ambiguous | -0.532 | Destabilizing | 0.999 | D | 0.74 | deleterious | N | 0.487543574 | None | None | I |
| S/P | 0.9918 | likely_pathogenic | 0.9921 | pathogenic | -0.24 | Destabilizing | 1.0 | D | 0.774 | deleterious | None | None | None | None | I |
| S/Q | 0.8776 | likely_pathogenic | 0.8758 | pathogenic | -0.802 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | I |
| S/R | 0.9589 | likely_pathogenic | 0.9619 | pathogenic | -0.496 | Destabilizing | 1.0 | D | 0.769 | deleterious | N | 0.490999841 | None | None | I |
| S/T | 0.3261 | likely_benign | 0.337 | benign | -0.571 | Destabilizing | 0.999 | D | 0.596 | neutral | N | 0.483099803 | None | None | I |
| S/V | 0.6815 | likely_pathogenic | 0.6471 | pathogenic | -0.24 | Destabilizing | 1.0 | D | 0.806 | deleterious | None | None | None | None | I |
| S/W | 0.8324 | likely_pathogenic | 0.8429 | pathogenic | -0.891 | Destabilizing | 1.0 | D | 0.83 | deleterious | None | None | None | None | I |
| S/Y | 0.5958 | likely_pathogenic | 0.618 | pathogenic | -0.629 | Destabilizing | 1.0 | D | 0.819 | 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.