Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31855 | 95788;95789;95790 | chr2:178545547;178545546;178545545 | chr2:179410274;179410273;179410272 |
| N2AB | 30214 | 90865;90866;90867 | chr2:178545547;178545546;178545545 | chr2:179410274;179410273;179410272 |
| N2A | 29287 | 88084;88085;88086 | chr2:178545547;178545546;178545545 | chr2:179410274;179410273;179410272 |
| N2B | 22790 | 68593;68594;68595 | chr2:178545547;178545546;178545545 | chr2:179410274;179410273;179410272 |
| Novex-1 | 22915 | 68968;68969;68970 | chr2:178545547;178545546;178545545 | chr2:179410274;179410273;179410272 |
| Novex-2 | 22982 | 69169;69170;69171 | chr2:178545547;178545546;178545545 | chr2:179410274;179410273;179410272 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/I | rs1696674198  |
None | 1.0 | N | 0.782 | 0.446 | 0.426551566703 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| T/I | rs1696674198 |
None | 1.0 | N | 0.782 | 0.446 | 0.426551566703 | gnomAD-4.0.0 | 2.56253E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.39344E-06 | 1.34009E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.1255 | likely_benign | 0.1294 | benign | -0.845 | Destabilizing | 0.999 | D | 0.598 | neutral | N | 0.468784664 | None | None | N |
| T/C | 0.3892 | ambiguous | 0.4546 | ambiguous | -0.489 | Destabilizing | 1.0 | D | 0.763 | deleterious | None | None | None | None | N |
| T/D | 0.7269 | likely_pathogenic | 0.7618 | pathogenic | -0.082 | Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | N |
| T/E | 0.5622 | ambiguous | 0.6051 | pathogenic | -0.071 | Destabilizing | 1.0 | D | 0.786 | deleterious | None | None | None | None | N |
| T/F | 0.3029 | likely_benign | 0.3233 | benign | -0.796 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| T/G | 0.3365 | likely_benign | 0.3579 | ambiguous | -1.116 | Destabilizing | 1.0 | D | 0.739 | prob.delet. | None | None | None | None | N |
| T/H | 0.358 | ambiguous | 0.3609 | ambiguous | -1.297 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | N |
| T/I | 0.1651 | likely_benign | 0.1711 | benign | -0.208 | Destabilizing | 1.0 | D | 0.782 | deleterious | N | 0.462318875 | None | None | N |
| T/K | 0.4255 | ambiguous | 0.4501 | ambiguous | -0.776 | Destabilizing | 1.0 | D | 0.789 | deleterious | N | 0.503317348 | None | None | N |
| T/L | 0.1244 | likely_benign | 0.1331 | benign | -0.208 | Destabilizing | 0.999 | D | 0.687 | prob.neutral | None | None | None | None | N |
| T/M | 0.0923 | likely_benign | 0.0913 | benign | -0.021 | Destabilizing | 1.0 | D | 0.763 | deleterious | None | None | None | None | N |
| T/N | 0.1742 | likely_benign | 0.184 | benign | -0.679 | Destabilizing | 1.0 | D | 0.725 | prob.delet. | None | None | None | None | N |
| T/P | 0.7225 | likely_pathogenic | 0.7004 | pathogenic | -0.388 | Destabilizing | 1.0 | D | 0.785 | deleterious | N | 0.502652997 | None | None | N |
| T/Q | 0.3046 | likely_benign | 0.319 | benign | -0.8 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | N |
| T/R | 0.385 | ambiguous | 0.3833 | ambiguous | -0.544 | Destabilizing | 1.0 | D | 0.787 | deleterious | N | 0.512611622 | None | None | N |
| T/S | 0.1503 | likely_benign | 0.1558 | benign | -0.989 | Destabilizing | 0.999 | D | 0.576 | neutral | N | 0.513766415 | None | None | N |
| T/V | 0.1189 | likely_benign | 0.134 | benign | -0.388 | Destabilizing | 0.999 | D | 0.611 | neutral | None | None | None | None | N |
| T/W | 0.69 | likely_pathogenic | 0.6858 | pathogenic | -0.735 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | N |
| T/Y | 0.3464 | ambiguous | 0.3745 | ambiguous | -0.524 | Destabilizing | 1.0 | D | 0.794 | deleterious | 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.