Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 10134 | 30625;30626;30627 | chr2:178702487;178702486;178702485 | chr2:179567214;179567213;179567212 |
| N2AB | 9817 | 29674;29675;29676 | chr2:178702487;178702486;178702485 | chr2:179567214;179567213;179567212 |
| N2A | 8890 | 26893;26894;26895 | chr2:178702487;178702486;178702485 | chr2:179567214;179567213;179567212 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| M/I | None | None | 0.309 | None | 0.523 | 0.263 | 0.363158594168 | gnomAD-4.0.0 | 3.18188E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.86648E-05 | 0 |
| M/T | rs755668668  |
-0.242 | 0.684 | None | 0.743 | 0.418 | 0.54665026281 | gnomAD-2.1.1 | 4.01E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.85E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| M/A | 0.9938 | likely_pathogenic | 0.9963 | pathogenic | -0.636 | Destabilizing | 0.373 | N | 0.703 | prob.neutral | None | None | None | None | N |
| M/C | 0.9796 | likely_pathogenic | 0.9848 | pathogenic | -1.36 | Destabilizing | 0.996 | D | 0.802 | deleterious | None | None | None | None | N |
| M/D | 1.0 | likely_pathogenic | 1.0 | pathogenic | -1.349 | Destabilizing | 0.984 | D | 0.883 | deleterious | None | None | None | None | N |
| M/E | 0.9995 | likely_pathogenic | 0.9997 | pathogenic | -1.078 | Destabilizing | 0.953 | D | 0.842 | deleterious | None | None | None | None | N |
| M/F | 0.9318 | likely_pathogenic | 0.9496 | pathogenic | 0.353 | Stabilizing | 0.742 | D | 0.655 | neutral | None | None | None | None | N |
| M/G | 0.9988 | likely_pathogenic | 0.9993 | pathogenic | -1.115 | Destabilizing | 0.854 | D | 0.841 | deleterious | None | None | None | None | N |
| M/H | 0.9992 | likely_pathogenic | 0.9996 | pathogenic | -1.441 | Destabilizing | 0.996 | D | 0.893 | deleterious | None | None | None | None | N |
| M/I | 0.9824 | likely_pathogenic | 0.9905 | pathogenic | 0.751 | Stabilizing | 0.309 | N | 0.523 | neutral | None | None | None | None | N |
| M/K | 0.9966 | likely_pathogenic | 0.9982 | pathogenic | -0.141 | Destabilizing | 0.815 | D | 0.751 | deleterious | None | None | None | None | N |
| M/L | 0.5243 | ambiguous | 0.5965 | pathogenic | 0.751 | Stabilizing | 0.003 | N | 0.257 | neutral | None | None | None | None | N |
| M/N | 0.9996 | likely_pathogenic | 0.9998 | pathogenic | -0.817 | Destabilizing | 0.984 | D | 0.879 | deleterious | None | None | None | None | N |
| M/P | 0.9999 | likely_pathogenic | 1.0 | pathogenic | 0.304 | Stabilizing | 0.984 | D | 0.882 | deleterious | None | None | None | None | N |
| M/Q | 0.9925 | likely_pathogenic | 0.9952 | pathogenic | -0.297 | Destabilizing | 0.984 | D | 0.622 | neutral | None | None | None | None | N |
| M/R | 0.9969 | likely_pathogenic | 0.9986 | pathogenic | -0.932 | Destabilizing | 0.939 | D | 0.782 | deleterious | None | None | None | None | N |
| M/S | 0.9991 | likely_pathogenic | 0.9995 | pathogenic | -1.046 | Destabilizing | 0.854 | D | 0.74 | deleterious | None | None | None | None | N |
| M/T | 0.9986 | likely_pathogenic | 0.9993 | pathogenic | -0.631 | Destabilizing | 0.684 | D | 0.743 | deleterious | None | None | None | None | N |
| M/V | 0.8314 | likely_pathogenic | 0.9009 | pathogenic | 0.304 | Stabilizing | 0.003 | N | 0.361 | neutral | None | None | None | None | N |
| M/W | 0.9994 | likely_pathogenic | 0.9997 | pathogenic | -0.095 | Destabilizing | 0.996 | D | 0.791 | deleterious | None | None | None | None | N |
| M/Y | 0.9973 | likely_pathogenic | 0.9986 | pathogenic | 0.093 | Stabilizing | 0.953 | D | 0.805 | 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.