Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 19081 | 57466;57467;57468 | chr2:178597929;178597928;178597927 | chr2:179462656;179462655;179462654 |
| N2AB | 17440 | 52543;52544;52545 | chr2:178597929;178597928;178597927 | chr2:179462656;179462655;179462654 |
| N2A | 16513 | 49762;49763;49764 | chr2:178597929;178597928;178597927 | chr2:179462656;179462655;179462654 |
| N2B | 10016 | 30271;30272;30273 | chr2:178597929;178597928;178597927 | chr2:179462656;179462655;179462654 |
| Novex-1 | 10141 | 30646;30647;30648 | chr2:178597929;178597928;178597927 | chr2:179462656;179462655;179462654 |
| Novex-2 | 10208 | 30847;30848;30849 | chr2:178597929;178597928;178597927 | chr2:179462656;179462655;179462654 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/T | rs78509062  |
-2.528 | 0.976 | N | 0.657 | 0.294 | None | gnomAD-2.1.1 | 7.5E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.58318E-04 | None | 3.27E-05 | None | 0 | 1.17147E-04 | 0 |
| I/T | rs78509062 |
-2.528 | 0.976 | N | 0.657 | 0.294 | None | gnomAD-3.1.2 | 1.44625E-04 | None | None | None | None | N | None | 4.83E-05 | 0 | 0 | 0 | 1.94024E-04 | None | 0 | 0 | 2.79387E-04 | 0 | 0 |
| I/T | rs78509062 |
-2.528 | 0.976 | N | 0.657 | 0.294 | None | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 0 | 1E-03 | None | None | None | 0 | None |
| I/T | rs78509062 |
-2.528 | 0.976 | N | 0.657 | 0.294 | None | gnomAD-4.0.0 | 1.63638E-04 | None | None | None | None | N | None | 2.66624E-05 | 0 | None | 0 | 3.5775E-04 | None | 0 | 0 | 1.90748E-04 | 1.09842E-05 | 3.20215E-04 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.3854 | ambiguous | 0.3739 | ambiguous | -2.422 | Highly Destabilizing | 0.982 | D | 0.568 | neutral | None | None | None | None | N |
| I/C | 0.7803 | likely_pathogenic | 0.7471 | pathogenic | -1.512 | Destabilizing | 1.0 | D | 0.719 | prob.delet. | None | None | None | None | N |
| I/D | 0.963 | likely_pathogenic | 0.9585 | pathogenic | -3.104 | Highly Destabilizing | 0.999 | D | 0.851 | deleterious | None | None | None | None | N |
| I/E | 0.8551 | likely_pathogenic | 0.8367 | pathogenic | -2.849 | Highly Destabilizing | 0.999 | D | 0.85 | deleterious | None | None | None | None | N |
| I/F | 0.2385 | likely_benign | 0.24 | benign | -1.615 | Destabilizing | 0.997 | D | 0.715 | prob.delet. | N | 0.515571783 | None | None | N |
| I/G | 0.8794 | likely_pathogenic | 0.8651 | pathogenic | -2.918 | Highly Destabilizing | 0.999 | D | 0.846 | deleterious | None | None | None | None | N |
| I/H | 0.7856 | likely_pathogenic | 0.7503 | pathogenic | -2.376 | Highly Destabilizing | 1.0 | D | 0.79 | deleterious | None | None | None | None | N |
| I/K | 0.6652 | likely_pathogenic | 0.6232 | pathogenic | -1.883 | Destabilizing | 0.999 | D | 0.85 | deleterious | None | None | None | None | N |
| I/L | 0.1242 | likely_benign | 0.136 | benign | -0.958 | Destabilizing | 0.787 | D | 0.361 | neutral | N | 0.464430886 | None | None | N |
| I/M | 0.1207 | likely_benign | 0.1188 | benign | -0.846 | Destabilizing | 0.997 | D | 0.689 | prob.delet. | N | 0.469199056 | None | None | N |
| I/N | 0.7552 | likely_pathogenic | 0.7176 | pathogenic | -2.386 | Highly Destabilizing | 0.999 | D | 0.845 | deleterious | N | 0.480555362 | None | None | N |
| I/P | 0.8919 | likely_pathogenic | 0.896 | pathogenic | -1.435 | Destabilizing | 0.999 | D | 0.853 | deleterious | None | None | None | None | N |
| I/Q | 0.6931 | likely_pathogenic | 0.6473 | pathogenic | -2.212 | Highly Destabilizing | 0.999 | D | 0.802 | deleterious | None | None | None | None | N |
| I/R | 0.5683 | likely_pathogenic | 0.5338 | ambiguous | -1.75 | Destabilizing | 0.999 | D | 0.832 | deleterious | None | None | None | None | N |
| I/S | 0.6014 | likely_pathogenic | 0.5627 | ambiguous | -2.933 | Highly Destabilizing | 0.997 | D | 0.769 | deleterious | N | 0.479287914 | None | None | N |
| I/T | 0.1927 | likely_benign | 0.1792 | benign | -2.537 | Highly Destabilizing | 0.976 | D | 0.657 | prob.neutral | N | 0.457634806 | None | None | N |
| I/V | 0.0847 | likely_benign | 0.0811 | benign | -1.435 | Destabilizing | 0.188 | N | 0.134 | neutral | N | 0.413330062 | None | None | N |
| I/W | 0.8439 | likely_pathogenic | 0.8363 | pathogenic | -1.968 | Destabilizing | 1.0 | D | 0.731 | deleterious | None | None | None | None | N |
| I/Y | 0.7396 | likely_pathogenic | 0.7174 | pathogenic | -1.659 | Destabilizing | 0.999 | D | 0.722 | 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.