Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 24985 | 75178;75179;75180 | chr2:178571179;178571178;178571177 | chr2:179435906;179435905;179435904 |
| N2AB | 23344 | 70255;70256;70257 | chr2:178571179;178571178;178571177 | chr2:179435906;179435905;179435904 |
| N2A | 22417 | 67474;67475;67476 | chr2:178571179;178571178;178571177 | chr2:179435906;179435905;179435904 |
| N2B | 15920 | 47983;47984;47985 | chr2:178571179;178571178;178571177 | chr2:179435906;179435905;179435904 |
| Novex-1 | 16045 | 48358;48359;48360 | chr2:178571179;178571178;178571177 | chr2:179435906;179435905;179435904 |
| Novex-2 | 16112 | 48559;48560;48561 | chr2:178571179;178571178;178571177 | chr2:179435906;179435905;179435904 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/S | rs878874875  |
None | 1.0 | D | 0.613 | 0.752 | None | gnomAD-4.0.0 | 7.52768E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.89536E-06 | 0 | 0 |
| A/T | rs878874875 |
-1.701 | 1.0 | D | 0.799 | 0.805 | 0.609517086792 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| A/T | rs878874875 |
-1.701 | 1.0 | D | 0.799 | 0.805 | 0.609517086792 | gnomAD-4.0.0 | 6.84334E-07 | None | None | None | None | N | None | 0 | 2.23674E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.8666 | likely_pathogenic | 0.8305 | pathogenic | -1.854 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | N |
| A/D | 0.999 | likely_pathogenic | 0.999 | pathogenic | -2.939 | Highly Destabilizing | 1.0 | D | 0.858 | deleterious | None | None | None | None | N |
| A/E | 0.9978 | likely_pathogenic | 0.9979 | pathogenic | -2.731 | Highly Destabilizing | 1.0 | D | 0.859 | deleterious | D | 0.658734617 | None | None | N |
| A/F | 0.997 | likely_pathogenic | 0.9966 | pathogenic | -0.616 | Destabilizing | 1.0 | D | 0.9 | deleterious | None | None | None | None | N |
| A/G | 0.6067 | likely_pathogenic | 0.6361 | pathogenic | -1.975 | Destabilizing | 1.0 | D | 0.623 | neutral | D | 0.596030519 | None | None | N |
| A/H | 0.9989 | likely_pathogenic | 0.9986 | pathogenic | -1.886 | Destabilizing | 1.0 | D | 0.876 | deleterious | None | None | None | None | N |
| A/I | 0.9878 | likely_pathogenic | 0.9864 | pathogenic | -0.483 | Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| A/K | 0.9995 | likely_pathogenic | 0.9994 | pathogenic | -1.354 | Destabilizing | 1.0 | D | 0.858 | deleterious | None | None | None | None | N |
| A/L | 0.9612 | likely_pathogenic | 0.9579 | pathogenic | -0.483 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | N |
| A/M | 0.9776 | likely_pathogenic | 0.971 | pathogenic | -1.085 | Destabilizing | 1.0 | D | 0.868 | deleterious | None | None | None | None | N |
| A/N | 0.9969 | likely_pathogenic | 0.9965 | pathogenic | -1.841 | Destabilizing | 1.0 | D | 0.887 | deleterious | None | None | None | None | N |
| A/P | 0.983 | likely_pathogenic | 0.9916 | pathogenic | -0.816 | Destabilizing | 1.0 | D | 0.865 | deleterious | D | 0.616773536 | None | None | N |
| A/Q | 0.9945 | likely_pathogenic | 0.994 | pathogenic | -1.598 | Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | N |
| A/R | 0.9964 | likely_pathogenic | 0.9963 | pathogenic | -1.432 | Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| A/S | 0.4215 | ambiguous | 0.3847 | ambiguous | -2.136 | Highly Destabilizing | 1.0 | D | 0.613 | neutral | D | 0.603318704 | None | None | N |
| A/T | 0.8149 | likely_pathogenic | 0.7858 | pathogenic | -1.827 | Destabilizing | 1.0 | D | 0.799 | deleterious | D | 0.632389288 | None | None | N |
| A/V | 0.9019 | likely_pathogenic | 0.8908 | pathogenic | -0.816 | Destabilizing | 1.0 | D | 0.707 | prob.neutral | D | 0.631783875 | None | None | N |
| A/W | 0.9997 | likely_pathogenic | 0.9996 | pathogenic | -1.247 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| A/Y | 0.9988 | likely_pathogenic | 0.9986 | pathogenic | -0.939 | Destabilizing | 1.0 | D | 0.901 | 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.