Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 7558 | 22897;22898;22899 | chr2:178721991;178721990;178721989 | chr2:179586718;179586717;179586716 |
| N2AB | 7241 | 21946;21947;21948 | chr2:178721991;178721990;178721989 | chr2:179586718;179586717;179586716 |
| N2A | 6314 | 19165;19166;19167 | chr2:178721991;178721990;178721989 | chr2:179586718;179586717;179586716 |
| 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/R | None | None | 1.0 | N | 0.711 | 0.404 | 0.409665357357 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| G/V | rs886055294  |
-0.388 | 1.0 | N | 0.732 | 0.422 | 0.478527412683 | gnomAD-2.1.1 | 8.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.77E-05 | 0 |
| G/V | rs886055294 |
-0.388 | 1.0 | N | 0.732 | 0.422 | 0.478527412683 | gnomAD-4.0.0 | 2.73727E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.59843E-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 | 0.3275 | likely_benign | 0.4575 | ambiguous | -0.233 | Destabilizing | 0.997 | D | 0.531 | neutral | N | 0.494825577 | None | None | N |
| G/C | 0.7891 | likely_pathogenic | 0.8339 | pathogenic | -0.941 | Destabilizing | 1.0 | D | 0.761 | deleterious | None | None | None | None | N |
| G/D | 0.853 | likely_pathogenic | 0.9322 | pathogenic | -0.367 | Destabilizing | 1.0 | D | 0.596 | neutral | None | None | None | None | N |
| G/E | 0.8827 | likely_pathogenic | 0.9417 | pathogenic | -0.509 | Destabilizing | 1.0 | D | 0.683 | prob.neutral | N | 0.507773445 | None | None | N |
| G/F | 0.934 | likely_pathogenic | 0.955 | pathogenic | -0.87 | Destabilizing | 1.0 | D | 0.75 | deleterious | None | None | None | None | N |
| G/H | 0.9 | likely_pathogenic | 0.9464 | pathogenic | -0.404 | Destabilizing | 1.0 | D | 0.717 | prob.delet. | None | None | None | None | N |
| G/I | 0.8828 | likely_pathogenic | 0.9352 | pathogenic | -0.354 | Destabilizing | 1.0 | D | 0.756 | deleterious | None | None | None | None | N |
| G/K | 0.9275 | likely_pathogenic | 0.9587 | pathogenic | -0.771 | Destabilizing | 1.0 | D | 0.689 | prob.neutral | None | None | None | None | N |
| G/L | 0.8755 | likely_pathogenic | 0.921 | pathogenic | -0.354 | Destabilizing | 1.0 | D | 0.738 | prob.delet. | None | None | None | None | N |
| G/M | 0.9015 | likely_pathogenic | 0.9371 | pathogenic | -0.582 | Destabilizing | 1.0 | D | 0.755 | deleterious | None | None | None | None | N |
| G/N | 0.8103 | likely_pathogenic | 0.8853 | pathogenic | -0.5 | Destabilizing | 1.0 | D | 0.601 | neutral | None | None | None | None | N |
| G/P | 0.9851 | likely_pathogenic | 0.9912 | pathogenic | -0.282 | Destabilizing | 1.0 | D | 0.705 | prob.neutral | None | None | None | None | N |
| G/Q | 0.8509 | likely_pathogenic | 0.9111 | pathogenic | -0.713 | Destabilizing | 1.0 | D | 0.722 | prob.delet. | None | None | None | None | N |
| G/R | 0.8192 | likely_pathogenic | 0.8866 | pathogenic | -0.393 | Destabilizing | 1.0 | D | 0.711 | prob.delet. | N | 0.464000681 | None | None | N |
| G/S | 0.2223 | likely_benign | 0.3508 | ambiguous | -0.669 | Destabilizing | 0.999 | D | 0.622 | neutral | None | None | None | None | N |
| G/T | 0.5451 | ambiguous | 0.7242 | pathogenic | -0.731 | Destabilizing | 1.0 | D | 0.683 | prob.neutral | None | None | None | None | N |
| G/V | 0.7516 | likely_pathogenic | 0.8516 | pathogenic | -0.282 | Destabilizing | 1.0 | D | 0.732 | prob.delet. | N | 0.466077822 | None | None | N |
| G/W | 0.8732 | likely_pathogenic | 0.9171 | pathogenic | -1.042 | Destabilizing | 1.0 | D | 0.725 | prob.delet. | None | None | None | None | N |
| G/Y | 0.9171 | likely_pathogenic | 0.9467 | pathogenic | -0.693 | Destabilizing | 1.0 | D | 0.747 | 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.