Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2155 | 6688;6689;6690 | chr2:178775401;178775400;178775399 | chr2:179640128;179640127;179640126 |
| N2AB | 2155 | 6688;6689;6690 | chr2:178775401;178775400;178775399 | chr2:179640128;179640127;179640126 |
| N2A | 2155 | 6688;6689;6690 | chr2:178775401;178775400;178775399 | chr2:179640128;179640127;179640126 |
| N2B | 2109 | 6550;6551;6552 | chr2:178775401;178775400;178775399 | chr2:179640128;179640127;179640126 |
| Novex-1 | 2109 | 6550;6551;6552 | chr2:178775401;178775400;178775399 | chr2:179640128;179640127;179640126 |
| Novex-2 | 2109 | 6550;6551;6552 | chr2:178775401;178775400;178775399 | chr2:179640128;179640127;179640126 |
| Novex-3 | 2155 | 6688;6689;6690 | chr2:178775401;178775400;178775399 | chr2:179640128;179640127;179640126 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/S | None | None | 0.999 | D | 0.571 | 0.681 | 0.550210968228 | gnomAD-4.0.0 | 3.18128E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.71301E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/A | 0.992 | likely_pathogenic | 0.9871 | pathogenic | -0.904 | Destabilizing | 1.0 | D | 0.745 | deleterious | None | None | None | None | N |
| N/C | 0.9463 | likely_pathogenic | 0.919 | pathogenic | -0.136 | Destabilizing | 1.0 | D | 0.697 | prob.neutral | None | None | None | None | N |
| N/D | 0.9908 | likely_pathogenic | 0.9851 | pathogenic | -1.113 | Destabilizing | 0.999 | D | 0.6 | neutral | D | 0.791707845 | None | None | N |
| N/E | 0.999 | likely_pathogenic | 0.9985 | pathogenic | -1.001 | Destabilizing | 0.999 | D | 0.691 | prob.neutral | None | None | None | None | N |
| N/F | 0.9993 | likely_pathogenic | 0.999 | pathogenic | -0.628 | Destabilizing | 1.0 | D | 0.748 | deleterious | None | None | None | None | N |
| N/G | 0.9724 | likely_pathogenic | 0.9625 | pathogenic | -1.252 | Destabilizing | 0.999 | D | 0.543 | neutral | None | None | None | None | N |
| N/H | 0.9767 | likely_pathogenic | 0.9629 | pathogenic | -1.015 | Destabilizing | 1.0 | D | 0.727 | prob.delet. | D | 0.82389822 | None | None | N |
| N/I | 0.9952 | likely_pathogenic | 0.9924 | pathogenic | -0.014 | Destabilizing | 1.0 | D | 0.733 | prob.delet. | D | 0.790286486 | None | None | N |
| N/K | 0.9995 | likely_pathogenic | 0.9991 | pathogenic | -0.378 | Destabilizing | 1.0 | D | 0.717 | prob.delet. | D | 0.824460869 | None | None | N |
| N/L | 0.9821 | likely_pathogenic | 0.9756 | pathogenic | -0.014 | Destabilizing | 1.0 | D | 0.739 | prob.delet. | None | None | None | None | N |
| N/M | 0.9952 | likely_pathogenic | 0.9926 | pathogenic | 0.479 | Stabilizing | 1.0 | D | 0.736 | prob.delet. | None | None | None | None | N |
| N/P | 0.9972 | likely_pathogenic | 0.9963 | pathogenic | -0.282 | Destabilizing | 1.0 | D | 0.73 | prob.delet. | None | None | None | None | N |
| N/Q | 0.9986 | likely_pathogenic | 0.9977 | pathogenic | -1.057 | Destabilizing | 1.0 | D | 0.726 | prob.delet. | None | None | None | None | N |
| N/R | 0.9987 | likely_pathogenic | 0.998 | pathogenic | -0.398 | Destabilizing | 1.0 | D | 0.735 | prob.delet. | None | None | None | None | N |
| N/S | 0.6643 | likely_pathogenic | 0.5838 | pathogenic | -1.03 | Destabilizing | 0.999 | D | 0.571 | neutral | D | 0.642570613 | None | None | N |
| N/T | 0.9299 | likely_pathogenic | 0.8902 | pathogenic | -0.738 | Destabilizing | 0.999 | D | 0.68 | prob.neutral | D | 0.790884685 | None | None | N |
| N/V | 0.9919 | likely_pathogenic | 0.9875 | pathogenic | -0.282 | Destabilizing | 1.0 | D | 0.738 | prob.delet. | None | None | None | None | N |
| N/W | 0.9998 | likely_pathogenic | 0.9997 | pathogenic | -0.409 | Destabilizing | 1.0 | D | 0.691 | prob.neutral | None | None | None | None | N |
| N/Y | 0.9948 | likely_pathogenic | 0.9926 | pathogenic | -0.175 | Destabilizing | 1.0 | D | 0.744 | deleterious | D | 0.823960495 | 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.