Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31381 | 94366;94367;94368 | chr2:178547485;178547484;178547483 | chr2:179412212;179412211;179412210 |
| N2AB | 29740 | 89443;89444;89445 | chr2:178547485;178547484;178547483 | chr2:179412212;179412211;179412210 |
| N2A | 28813 | 86662;86663;86664 | chr2:178547485;178547484;178547483 | chr2:179412212;179412211;179412210 |
| N2B | 22316 | 67171;67172;67173 | chr2:178547485;178547484;178547483 | chr2:179412212;179412211;179412210 |
| Novex-1 | 22441 | 67546;67547;67548 | chr2:178547485;178547484;178547483 | chr2:179412212;179412211;179412210 |
| Novex-2 | 22508 | 67747;67748;67749 | chr2:178547485;178547484;178547483 | chr2:179412212;179412211;179412210 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/S | rs751185223  |
-3.364 | 1.0 | D | 0.821 | 0.684 | 0.848173506427 | gnomAD-2.1.1 | 4.05E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.97E-06 | 0 |
| F/S | rs751185223 |
-3.364 | 1.0 | D | 0.821 | 0.684 | 0.848173506427 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| F/S | rs751185223 |
-3.364 | 1.0 | D | 0.821 | 0.684 | 0.848173506427 | gnomAD-4.0.0 | 1.30202E-05 | None | None | None | None | N | None | 1.33508E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 1.69571E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/A | 0.999 | likely_pathogenic | 0.9983 | pathogenic | -1.928 | Destabilizing | 1.0 | D | 0.766 | deleterious | None | None | None | None | N |
| F/C | 0.9904 | likely_pathogenic | 0.9846 | pathogenic | -1.304 | Destabilizing | 1.0 | D | 0.829 | deleterious | D | 0.548619013 | None | None | N |
| F/D | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -2.742 | Highly Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| F/E | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -2.484 | Highly Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| F/G | 0.9994 | likely_pathogenic | 0.9991 | pathogenic | -2.407 | Highly Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| F/H | 0.9987 | likely_pathogenic | 0.9982 | pathogenic | -1.72 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | N |
| F/I | 0.9454 | likely_pathogenic | 0.9219 | pathogenic | -0.37 | Destabilizing | 1.0 | D | 0.776 | deleterious | N | 0.506833734 | None | None | N |
| F/K | 0.9999 | likely_pathogenic | 0.9998 | pathogenic | -1.805 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| F/L | 0.996 | likely_pathogenic | 0.9939 | pathogenic | -0.37 | Destabilizing | 0.999 | D | 0.712 | prob.delet. | N | 0.503492826 | None | None | N |
| F/M | 0.9853 | likely_pathogenic | 0.9783 | pathogenic | -0.297 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | N |
| F/N | 0.9997 | likely_pathogenic | 0.9996 | pathogenic | -2.525 | Highly Destabilizing | 1.0 | D | 0.866 | deleterious | None | None | None | None | N |
| F/P | 1.0 | likely_pathogenic | 0.9999 | pathogenic | -0.902 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| F/Q | 0.9997 | likely_pathogenic | 0.9996 | pathogenic | -2.199 | Highly Destabilizing | 1.0 | D | 0.866 | deleterious | None | None | None | None | N |
| F/R | 0.9995 | likely_pathogenic | 0.9993 | pathogenic | -1.916 | Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | N |
| F/S | 0.9993 | likely_pathogenic | 0.999 | pathogenic | -2.988 | Highly Destabilizing | 1.0 | D | 0.821 | deleterious | D | 0.548619013 | None | None | N |
| F/T | 0.9993 | likely_pathogenic | 0.9988 | pathogenic | -2.593 | Highly Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | N |
| F/V | 0.9511 | likely_pathogenic | 0.9216 | pathogenic | -0.902 | Destabilizing | 1.0 | D | 0.725 | prob.delet. | N | 0.505006401 | None | None | N |
| F/W | 0.963 | likely_pathogenic | 0.9601 | pathogenic | 0.012 | Stabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | N |
| F/Y | 0.8978 | likely_pathogenic | 0.8728 | pathogenic | -0.326 | Destabilizing | 0.999 | D | 0.638 | neutral | N | 0.502749265 | 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.