Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 17362 | 52309;52310;52311 | chr2:178609226;178609225;178609224 | chr2:179473953;179473952;179473951 |
| N2AB | 15721 | 47386;47387;47388 | chr2:178609226;178609225;178609224 | chr2:179473953;179473952;179473951 |
| N2A | 14794 | 44605;44606;44607 | chr2:178609226;178609225;178609224 | chr2:179473953;179473952;179473951 |
| N2B | 8297 | 25114;25115;25116 | chr2:178609226;178609225;178609224 | chr2:179473953;179473952;179473951 |
| Novex-1 | 8422 | 25489;25490;25491 | chr2:178609226;178609225;178609224 | chr2:179473953;179473952;179473951 |
| Novex-2 | 8489 | 25690;25691;25692 | chr2:178609226;178609225;178609224 | chr2:179473953;179473952;179473951 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/G | None | None | 0.811 | D | 0.788 | 0.457 | 0.775163460009 | gnomAD-4.0.0 | 7.30789E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.58612E-05 | None | 0 | 0 | 0 | 0 | 0 |
| C/Y | rs1553690569  |
None | 0.995 | N | 0.799 | 0.363 | 0.686901006496 | gnomAD-4.0.0 | 2.1939E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.80274E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/A | 0.7061 | likely_pathogenic | 0.6663 | pathogenic | -1.699 | Destabilizing | 0.702 | D | 0.515 | neutral | None | None | None | None | N |
| C/D | 0.998 | likely_pathogenic | 0.997 | pathogenic | -1.381 | Destabilizing | 0.976 | D | 0.813 | deleterious | None | None | None | None | N |
| C/E | 0.9983 | likely_pathogenic | 0.9977 | pathogenic | -1.152 | Destabilizing | 0.976 | D | 0.828 | deleterious | None | None | None | None | N |
| C/F | 0.7161 | likely_pathogenic | 0.6941 | pathogenic | -1.13 | Destabilizing | 0.995 | D | 0.781 | deleterious | N | 0.49723203 | None | None | N |
| C/G | 0.7645 | likely_pathogenic | 0.7046 | pathogenic | -2.073 | Highly Destabilizing | 0.811 | D | 0.788 | deleterious | D | 0.531403319 | None | None | N |
| C/H | 0.9886 | likely_pathogenic | 0.9862 | pathogenic | -2.342 | Highly Destabilizing | 0.999 | D | 0.824 | deleterious | None | None | None | None | N |
| C/I | 0.6251 | likely_pathogenic | 0.6034 | pathogenic | -0.696 | Destabilizing | 0.988 | D | 0.755 | deleterious | None | None | None | None | N |
| C/K | 0.9983 | likely_pathogenic | 0.9978 | pathogenic | -1.054 | Destabilizing | 0.976 | D | 0.811 | deleterious | None | None | None | None | N |
| C/L | 0.7284 | likely_pathogenic | 0.7009 | pathogenic | -0.696 | Destabilizing | 0.919 | D | 0.714 | prob.delet. | None | None | None | None | N |
| C/M | 0.86 | likely_pathogenic | 0.8529 | pathogenic | 0.068 | Stabilizing | 0.999 | D | 0.745 | deleterious | None | None | None | None | N |
| C/N | 0.9864 | likely_pathogenic | 0.9811 | pathogenic | -1.629 | Destabilizing | 0.976 | D | 0.83 | deleterious | None | None | None | None | N |
| C/P | 0.9981 | likely_pathogenic | 0.9975 | pathogenic | -1.006 | Destabilizing | 0.988 | D | 0.845 | deleterious | None | None | None | None | N |
| C/Q | 0.9921 | likely_pathogenic | 0.9905 | pathogenic | -1.202 | Destabilizing | 0.988 | D | 0.851 | deleterious | None | None | None | None | N |
| C/R | 0.9858 | likely_pathogenic | 0.9824 | pathogenic | -1.443 | Destabilizing | 0.968 | D | 0.841 | deleterious | N | 0.505696369 | None | None | N |
| C/S | 0.8156 | likely_pathogenic | 0.7803 | pathogenic | -1.97 | Destabilizing | 0.103 | N | 0.47 | neutral | N | 0.509430536 | None | None | N |
| C/T | 0.8288 | likely_pathogenic | 0.7949 | pathogenic | -1.536 | Destabilizing | 0.851 | D | 0.733 | prob.delet. | None | None | None | None | N |
| C/V | 0.4446 | ambiguous | 0.4257 | ambiguous | -1.006 | Destabilizing | 0.919 | D | 0.753 | deleterious | None | None | None | None | N |
| C/W | 0.9765 | likely_pathogenic | 0.9746 | pathogenic | -1.458 | Destabilizing | 0.999 | D | 0.781 | deleterious | N | 0.505949859 | None | None | N |
| C/Y | 0.9251 | likely_pathogenic | 0.9133 | pathogenic | -1.262 | Destabilizing | 0.995 | D | 0.799 | deleterious | N | 0.515337788 | 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.