Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 17034 | 51325;51326;51327 | chr2:178611029;178611028;178611027 | chr2:179475756;179475755;179475754 |
| N2AB | 15393 | 46402;46403;46404 | chr2:178611029;178611028;178611027 | chr2:179475756;179475755;179475754 |
| N2A | 14466 | 43621;43622;43623 | chr2:178611029;178611028;178611027 | chr2:179475756;179475755;179475754 |
| N2B | 7969 | 24130;24131;24132 | chr2:178611029;178611028;178611027 | chr2:179475756;179475755;179475754 |
| Novex-1 | 8094 | 24505;24506;24507 | chr2:178611029;178611028;178611027 | chr2:179475756;179475755;179475754 |
| Novex-2 | 8161 | 24706;24707;24708 | chr2:178611029;178611028;178611027 | chr2:179475756;179475755;179475754 |
| 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 | rs886042475  |
-0.535 | 1.0 | D | 0.753 | 0.735 | 0.578877614382 | gnomAD-2.1.1 | 2.01E-05 | None | None | None | None | I | None | 0 | 1.16077E-04 | None | 0 | 0 | None | 0 | None | 0 | 8.9E-06 | 0 |
| G/S | rs886042475 |
-0.535 | 1.0 | D | 0.753 | 0.735 | 0.578877614382 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| G/S | rs886042475 |
-0.535 | 1.0 | D | 0.753 | 0.735 | 0.578877614382 | gnomAD-4.0.0 | 1.17834E-05 | None | None | None | None | I | None | 1.33693E-05 | 8.3439E-05 | None | 0 | 0 | None | 0 | 0 | 1.01774E-05 | 1.09907E-05 | 0 |
| G/V | None | None | 0.997 | D | 0.798 | 0.697 | 0.934022910283 | gnomAD-4.0.0 | 6.84695E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99969E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.3504 | ambiguous | 0.4089 | ambiguous | -0.372 | Destabilizing | 0.604 | D | 0.47 | neutral | D | 0.749055452 | None | None | I |
| G/C | 0.6336 | likely_pathogenic | 0.6402 | pathogenic | -0.891 | Destabilizing | 1.0 | D | 0.784 | deleterious | D | 0.804318766 | None | None | I |
| G/D | 0.6661 | likely_pathogenic | 0.6876 | pathogenic | -0.821 | Destabilizing | 0.999 | D | 0.811 | deleterious | D | 0.696300313 | None | None | I |
| G/E | 0.7415 | likely_pathogenic | 0.753 | pathogenic | -0.987 | Destabilizing | 0.999 | D | 0.811 | deleterious | None | None | None | None | I |
| G/F | 0.937 | likely_pathogenic | 0.9474 | pathogenic | -1.099 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | I |
| G/H | 0.8569 | likely_pathogenic | 0.8775 | pathogenic | -0.633 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | I |
| G/I | 0.8987 | likely_pathogenic | 0.9094 | pathogenic | -0.496 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | I |
| G/K | 0.9112 | likely_pathogenic | 0.9187 | pathogenic | -0.965 | Destabilizing | 0.999 | D | 0.812 | deleterious | None | None | None | None | I |
| G/L | 0.8709 | likely_pathogenic | 0.8976 | pathogenic | -0.496 | Destabilizing | 0.999 | D | 0.801 | deleterious | None | None | None | None | I |
| G/M | 0.9125 | likely_pathogenic | 0.9287 | pathogenic | -0.481 | Destabilizing | 1.0 | D | 0.796 | deleterious | None | None | None | None | I |
| G/N | 0.7703 | likely_pathogenic | 0.803 | pathogenic | -0.571 | Destabilizing | 0.999 | D | 0.779 | deleterious | None | None | None | None | I |
| G/P | 0.9952 | likely_pathogenic | 0.9949 | pathogenic | -0.421 | Destabilizing | 0.999 | D | 0.816 | deleterious | None | None | None | None | I |
| G/Q | 0.7914 | likely_pathogenic | 0.8086 | pathogenic | -0.892 | Destabilizing | 1.0 | D | 0.84 | deleterious | None | None | None | None | I |
| G/R | 0.833 | likely_pathogenic | 0.8383 | pathogenic | -0.456 | Destabilizing | 1.0 | D | 0.83 | deleterious | D | 0.770841008 | None | None | I |
| G/S | 0.3052 | likely_benign | 0.3328 | benign | -0.689 | Destabilizing | 1.0 | D | 0.753 | deleterious | D | 0.733368335 | None | None | I |
| G/T | 0.6419 | likely_pathogenic | 0.6574 | pathogenic | -0.793 | Destabilizing | 0.999 | D | 0.803 | deleterious | None | None | None | None | I |
| G/V | 0.8086 | likely_pathogenic | 0.8208 | pathogenic | -0.421 | Destabilizing | 0.997 | D | 0.798 | deleterious | D | 0.769843388 | None | None | I |
| G/W | 0.917 | likely_pathogenic | 0.9193 | pathogenic | -1.25 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | I |
| G/Y | 0.8905 | likely_pathogenic | 0.9032 | pathogenic | -0.912 | Destabilizing | 1.0 | D | 0.833 | 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.