Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 6037 | 18334;18335;18336 | chr2:178730291;178730290;178730289 | chr2:179595018;179595017;179595016 |
| N2AB | 5720 | 17383;17384;17385 | chr2:178730291;178730290;178730289 | chr2:179595018;179595017;179595016 |
| N2A | 4793 | 14602;14603;14604 | chr2:178730291;178730290;178730289 | chr2:179595018;179595017;179595016 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/S | rs377578914  |
-0.227 | 1.0 | D | 0.815 | 0.66 | None | gnomAD-2.1.1 | 4.08E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 9.03E-06 | 0 |
| G/S | rs377578914 |
-0.227 | 1.0 | D | 0.815 | 0.66 | None | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| G/S | rs377578914 |
-0.227 | 1.0 | D | 0.815 | 0.66 | None | gnomAD-4.0.0 | 3.72169E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.08852E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.5308 | ambiguous | 0.6637 | pathogenic | -0.292 | Destabilizing | 1.0 | D | 0.756 | deleterious | D | 0.564625776 | None | None | I |
| G/C | 0.8924 | likely_pathogenic | 0.9272 | pathogenic | -0.715 | Destabilizing | 1.0 | D | 0.731 | prob.delet. | D | 0.640472178 | None | None | I |
| G/D | 0.975 | likely_pathogenic | 0.9841 | pathogenic | -0.696 | Destabilizing | 1.0 | D | 0.815 | deleterious | D | 0.61372324 | None | None | I |
| G/E | 0.9727 | likely_pathogenic | 0.9822 | pathogenic | -0.838 | Destabilizing | 1.0 | D | 0.804 | deleterious | None | None | None | None | I |
| G/F | 0.9834 | likely_pathogenic | 0.9885 | pathogenic | -0.941 | Destabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | None | I |
| G/H | 0.9895 | likely_pathogenic | 0.9936 | pathogenic | -0.622 | Destabilizing | 1.0 | D | 0.707 | prob.neutral | None | None | None | None | I |
| G/I | 0.9615 | likely_pathogenic | 0.9748 | pathogenic | -0.339 | Destabilizing | 1.0 | D | 0.78 | deleterious | None | None | None | None | I |
| G/K | 0.9895 | likely_pathogenic | 0.9924 | pathogenic | -0.921 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | I |
| G/L | 0.9767 | likely_pathogenic | 0.9858 | pathogenic | -0.339 | Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | I |
| G/M | 0.9802 | likely_pathogenic | 0.9876 | pathogenic | -0.454 | Destabilizing | 1.0 | D | 0.715 | prob.delet. | None | None | None | None | I |
| G/N | 0.9738 | likely_pathogenic | 0.9818 | pathogenic | -0.479 | Destabilizing | 1.0 | D | 0.814 | deleterious | None | None | None | None | I |
| G/P | 0.9945 | likely_pathogenic | 0.9966 | pathogenic | -0.289 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | I |
| G/Q | 0.9796 | likely_pathogenic | 0.9871 | pathogenic | -0.744 | Destabilizing | 1.0 | D | 0.804 | deleterious | None | None | None | None | I |
| G/R | 0.9738 | likely_pathogenic | 0.9818 | pathogenic | -0.483 | Destabilizing | 1.0 | D | 0.809 | deleterious | D | 0.614530457 | None | None | I |
| G/S | 0.6295 | likely_pathogenic | 0.7471 | pathogenic | -0.599 | Destabilizing | 1.0 | D | 0.815 | deleterious | D | 0.561920163 | None | None | I |
| G/T | 0.9092 | likely_pathogenic | 0.9366 | pathogenic | -0.675 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | I |
| G/V | 0.9273 | likely_pathogenic | 0.9509 | pathogenic | -0.289 | Destabilizing | 1.0 | D | 0.777 | deleterious | D | 0.623817043 | None | None | I |
| G/W | 0.9769 | likely_pathogenic | 0.9846 | pathogenic | -1.153 | Destabilizing | 1.0 | D | 0.723 | prob.delet. | None | None | None | None | I |
| G/Y | 0.9831 | likely_pathogenic | 0.9891 | pathogenic | -0.787 | Destabilizing | 1.0 | D | 0.755 | 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.