Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31281 | 94066;94067;94068 | chr2:178547785;178547784;178547783 | chr2:179412512;179412511;179412510 |
| N2AB | 29640 | 89143;89144;89145 | chr2:178547785;178547784;178547783 | chr2:179412512;179412511;179412510 |
| N2A | 28713 | 86362;86363;86364 | chr2:178547785;178547784;178547783 | chr2:179412512;179412511;179412510 |
| N2B | 22216 | 66871;66872;66873 | chr2:178547785;178547784;178547783 | chr2:179412512;179412511;179412510 |
| Novex-1 | 22341 | 67246;67247;67248 | chr2:178547785;178547784;178547783 | chr2:179412512;179412511;179412510 |
| Novex-2 | 22408 | 67447;67448;67449 | chr2:178547785;178547784;178547783 | chr2:179412512;179412511;179412510 |
| 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/A | None | None | 0.992 | N | 0.509 | 0.337 | 0.130388298395 | gnomAD-4.0.0 | 6.84168E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.15931E-05 | 0 |
| G/D | None | None | 0.999 | N | 0.757 | 0.437 | 0.156986980423 | gnomAD-4.0.0 | 3.42084E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.03981E-05 | None | 0 | 0 | 1.79884E-06 | 1.15931E-05 | 0 |
| G/S | rs1352252944  |
-0.013 | 0.905 | N | 0.434 | 0.176 | 0.0846915920261 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| G/S | rs1352252944 |
-0.013 | 0.905 | N | 0.434 | 0.176 | 0.0846915920261 | gnomAD-4.0.0 | 1.59106E-06 | None | None | None | None | N | None | 0 | 2.28655E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 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 | 0.1559 | likely_benign | 0.1711 | benign | -0.301 | Destabilizing | 0.992 | D | 0.509 | neutral | N | 0.444124611 | None | None | N |
| G/C | 0.3014 | likely_benign | 0.3082 | benign | -0.864 | Destabilizing | 1.0 | D | 0.763 | deleterious | N | 0.45857895 | None | None | N |
| G/D | 0.4098 | ambiguous | 0.4533 | ambiguous | -0.609 | Destabilizing | 0.999 | D | 0.757 | deleterious | N | 0.443161819 | None | None | N |
| G/E | 0.3688 | ambiguous | 0.4128 | ambiguous | -0.773 | Destabilizing | 0.999 | D | 0.781 | deleterious | None | None | None | None | N |
| G/F | 0.7442 | likely_pathogenic | 0.7432 | pathogenic | -1.018 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | N |
| G/H | 0.5893 | likely_pathogenic | 0.617 | pathogenic | -0.483 | Destabilizing | 1.0 | D | 0.738 | prob.delet. | None | None | None | None | N |
| G/I | 0.4217 | ambiguous | 0.427 | ambiguous | -0.445 | Destabilizing | 1.0 | D | 0.808 | deleterious | None | None | None | None | N |
| G/K | 0.6186 | likely_pathogenic | 0.6445 | pathogenic | -0.842 | Destabilizing | 0.999 | D | 0.779 | deleterious | None | None | None | None | N |
| G/L | 0.5488 | ambiguous | 0.589 | pathogenic | -0.445 | Destabilizing | 1.0 | D | 0.8 | deleterious | None | None | None | None | N |
| G/M | 0.5523 | ambiguous | 0.5641 | pathogenic | -0.478 | Destabilizing | 1.0 | D | 0.776 | deleterious | None | None | None | None | N |
| G/N | 0.4053 | ambiguous | 0.4163 | ambiguous | -0.462 | Destabilizing | 0.999 | D | 0.735 | prob.delet. | None | None | None | None | N |
| G/P | 0.8248 | likely_pathogenic | 0.8466 | pathogenic | -0.364 | Destabilizing | 1.0 | D | 0.804 | deleterious | None | None | None | None | N |
| G/Q | 0.4787 | ambiguous | 0.5138 | ambiguous | -0.758 | Destabilizing | 1.0 | D | 0.802 | deleterious | None | None | None | None | N |
| G/R | 0.4846 | ambiguous | 0.5166 | ambiguous | -0.354 | Destabilizing | 0.999 | D | 0.801 | deleterious | N | 0.463403805 | None | None | N |
| G/S | 0.132 | likely_benign | 0.1376 | benign | -0.613 | Destabilizing | 0.905 | D | 0.434 | neutral | N | 0.384228158 | None | None | N |
| G/T | 0.2176 | likely_benign | 0.2314 | benign | -0.708 | Destabilizing | 0.998 | D | 0.768 | deleterious | None | None | None | None | N |
| G/V | 0.2951 | likely_benign | 0.3106 | benign | -0.364 | Destabilizing | 0.999 | D | 0.803 | deleterious | N | 0.507637372 | None | None | N |
| G/W | 0.5062 | ambiguous | 0.5372 | ambiguous | -1.161 | Destabilizing | 1.0 | D | 0.733 | prob.delet. | None | None | None | None | N |
| G/Y | 0.5978 | likely_pathogenic | 0.6013 | pathogenic | -0.821 | Destabilizing | 1.0 | D | 0.8 | 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.