Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18254 | 54985;54986;54987 | chr2:178603927;178603926;178603925 | chr2:179468654;179468653;179468652 |
| N2AB | 16613 | 50062;50063;50064 | chr2:178603927;178603926;178603925 | chr2:179468654;179468653;179468652 |
| N2A | 15686 | 47281;47282;47283 | chr2:178603927;178603926;178603925 | chr2:179468654;179468653;179468652 |
| N2B | 9189 | 27790;27791;27792 | chr2:178603927;178603926;178603925 | chr2:179468654;179468653;179468652 |
| Novex-1 | 9314 | 28165;28166;28167 | chr2:178603927;178603926;178603925 | chr2:179468654;179468653;179468652 |
| Novex-2 | 9381 | 28366;28367;28368 | chr2:178603927;178603926;178603925 | chr2:179468654;179468653;179468652 |
| 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/F | rs766737617  |
-1.539 | 0.638 | N | 0.774 | 0.07 | 0.336400405673 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 2.67E-05 | 0 |
| I/F | rs766737617 |
-1.539 | 0.638 | N | 0.774 | 0.07 | 0.336400405673 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| I/F | rs766737617 |
-1.539 | 0.638 | N | 0.774 | 0.07 | 0.336400405673 | gnomAD-4.0.0 | 1.36479E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.78161E-05 | 1.09953E-05 | 0 |
| I/T | rs1356331923 |
-1.892 | 0.201 | N | 0.718 | 0.134 | 0.432604763906 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.9E-06 | 0 |
| I/T | rs1356331923 |
-1.892 | 0.201 | N | 0.718 | 0.134 | 0.432604763906 | gnomAD-4.0.0 | 3.42479E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.60125E-06 | 0 | 1.65893E-05 |
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 | 0.2346 | likely_benign | 0.2255 | benign | -1.534 | Destabilizing | 0.25 | N | 0.666 | neutral | None | None | None | None | I |
| I/C | 0.6353 | likely_pathogenic | 0.6365 | pathogenic | -0.937 | Destabilizing | 0.947 | D | 0.775 | deleterious | None | None | None | None | I |
| I/D | 0.8068 | likely_pathogenic | 0.8032 | pathogenic | -0.88 | Destabilizing | 0.826 | D | 0.825 | deleterious | None | None | None | None | I |
| I/E | 0.6031 | likely_pathogenic | 0.6214 | pathogenic | -0.88 | Destabilizing | 0.826 | D | 0.822 | deleterious | None | None | None | None | I |
| I/F | 0.2486 | likely_benign | 0.2518 | benign | -1.019 | Destabilizing | 0.638 | D | 0.774 | deleterious | N | 0.47922698 | None | None | I |
| I/G | 0.7034 | likely_pathogenic | 0.7014 | pathogenic | -1.845 | Destabilizing | 0.826 | D | 0.816 | deleterious | None | None | None | None | I |
| I/H | 0.6865 | likely_pathogenic | 0.7109 | pathogenic | -0.883 | Destabilizing | 0.982 | D | 0.819 | deleterious | None | None | None | None | I |
| I/K | 0.5144 | ambiguous | 0.5696 | pathogenic | -1.022 | Destabilizing | 0.826 | D | 0.819 | deleterious | None | None | None | None | I |
| I/L | 0.1264 | likely_benign | 0.134 | benign | -0.76 | Destabilizing | 0.043 | N | 0.437 | neutral | N | 0.439129797 | None | None | I |
| I/M | 0.1222 | likely_benign | 0.1329 | benign | -0.647 | Destabilizing | 0.638 | D | 0.765 | deleterious | N | 0.460987936 | None | None | I |
| I/N | 0.4054 | ambiguous | 0.4376 | ambiguous | -0.85 | Destabilizing | 0.916 | D | 0.826 | deleterious | N | 0.492964282 | None | None | I |
| I/P | 0.4546 | ambiguous | 0.4745 | ambiguous | -0.986 | Destabilizing | 0.826 | D | 0.827 | deleterious | None | None | None | None | I |
| I/Q | 0.5227 | ambiguous | 0.5441 | ambiguous | -1.025 | Destabilizing | 0.935 | D | 0.82 | deleterious | None | None | None | None | I |
| I/R | 0.4594 | ambiguous | 0.4888 | ambiguous | -0.382 | Destabilizing | 0.826 | D | 0.823 | deleterious | None | None | None | None | I |
| I/S | 0.3297 | likely_benign | 0.3381 | benign | -1.461 | Destabilizing | 0.638 | D | 0.799 | deleterious | N | 0.462814733 | None | None | I |
| I/T | 0.1284 | likely_benign | 0.1209 | benign | -1.34 | Destabilizing | 0.201 | N | 0.718 | prob.delet. | N | 0.445479766 | None | None | I |
| I/V | 0.0636 | likely_benign | 0.0612 | benign | -0.986 | Destabilizing | 0.001 | N | 0.308 | neutral | N | 0.393781509 | None | None | I |
| I/W | 0.8457 | likely_pathogenic | 0.8421 | pathogenic | -1.043 | Destabilizing | 0.982 | D | 0.769 | deleterious | None | None | None | None | I |
| I/Y | 0.6366 | likely_pathogenic | 0.6581 | pathogenic | -0.843 | Destabilizing | 0.826 | D | 0.785 | 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.