Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 9925 | 29998;29999;30000 | chr2:178704699;178704698;178704697 | chr2:179569426;179569425;179569424 |
| N2AB | 9608 | 29047;29048;29049 | chr2:178704699;178704698;178704697 | chr2:179569426;179569425;179569424 |
| N2A | 8681 | 26266;26267;26268 | chr2:178704699;178704698;178704697 | chr2:179569426;179569425;179569424 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/N | None | None | 1.0 | None | 0.746 | 0.498 | 0.872484263163 | gnomAD-4.0.0 | 1.20034E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.31253E-06 | 0 | 0 |
| I/V | None | None | 0.993 | None | 0.323 | 0.238 | 0.605179040742 | gnomAD-4.0.0 | 1.59695E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 2.41429E-04 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.985 | likely_pathogenic | 0.9889 | pathogenic | -2.114 | Highly Destabilizing | 0.999 | D | 0.495 | neutral | None | None | None | None | I |
| I/C | 0.9897 | likely_pathogenic | 0.9918 | pathogenic | -1.181 | Destabilizing | 1.0 | D | 0.669 | neutral | None | None | None | None | I |
| I/D | 0.998 | likely_pathogenic | 0.9981 | pathogenic | -2.048 | Highly Destabilizing | 1.0 | D | 0.715 | prob.delet. | None | None | None | None | I |
| I/E | 0.9893 | likely_pathogenic | 0.9907 | pathogenic | -2.0 | Highly Destabilizing | 1.0 | D | 0.712 | prob.delet. | None | None | None | None | I |
| I/F | 0.9047 | likely_pathogenic | 0.909 | pathogenic | -1.464 | Destabilizing | 1.0 | D | 0.701 | prob.neutral | None | None | None | None | I |
| I/G | 0.9963 | likely_pathogenic | 0.997 | pathogenic | -2.501 | Highly Destabilizing | 1.0 | D | 0.721 | prob.delet. | None | None | None | None | I |
| I/H | 0.9959 | likely_pathogenic | 0.9966 | pathogenic | -1.866 | Destabilizing | 1.0 | D | 0.727 | prob.delet. | None | None | None | None | I |
| I/K | 0.9762 | likely_pathogenic | 0.9778 | pathogenic | -1.636 | Destabilizing | 1.0 | D | 0.714 | prob.delet. | None | None | None | None | I |
| I/L | 0.6369 | likely_pathogenic | 0.7063 | pathogenic | -1.077 | Destabilizing | 0.993 | D | 0.325 | neutral | None | None | None | None | I |
| I/M | 0.5467 | ambiguous | 0.6036 | pathogenic | -0.717 | Destabilizing | 1.0 | D | 0.685 | prob.neutral | None | None | None | None | I |
| I/N | 0.9676 | likely_pathogenic | 0.9708 | pathogenic | -1.486 | Destabilizing | 1.0 | D | 0.746 | deleterious | None | None | None | None | I |
| I/P | 0.9931 | likely_pathogenic | 0.9943 | pathogenic | -1.396 | Destabilizing | 1.0 | D | 0.745 | deleterious | None | None | None | None | I |
| I/Q | 0.9863 | likely_pathogenic | 0.9885 | pathogenic | -1.624 | Destabilizing | 1.0 | D | 0.733 | prob.delet. | None | None | None | None | I |
| I/R | 0.9709 | likely_pathogenic | 0.972 | pathogenic | -1.034 | Destabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | I |
| I/S | 0.9841 | likely_pathogenic | 0.9859 | pathogenic | -2.063 | Highly Destabilizing | 1.0 | D | 0.693 | prob.neutral | None | None | None | None | I |
| I/T | 0.9704 | likely_pathogenic | 0.9797 | pathogenic | -1.902 | Destabilizing | 1.0 | D | 0.658 | neutral | None | None | None | None | I |
| I/V | 0.3683 | ambiguous | 0.4535 | ambiguous | -1.396 | Destabilizing | 0.993 | D | 0.323 | neutral | None | None | None | None | I |
| I/W | 0.9949 | likely_pathogenic | 0.9948 | pathogenic | -1.673 | Destabilizing | 1.0 | D | 0.709 | prob.delet. | None | None | None | None | I |
| I/Y | 0.9826 | likely_pathogenic | 0.9814 | pathogenic | -1.458 | Destabilizing | 1.0 | D | 0.681 | prob.neutral | None | None | None | None | I |
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.