Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 1457 | 4594;4595;4596 | chr2:178777815;178777814;178777813 | chr2:179642542;179642541;179642540 |
| N2AB | 1457 | 4594;4595;4596 | chr2:178777815;178777814;178777813 | chr2:179642542;179642541;179642540 |
| N2A | 1457 | 4594;4595;4596 | chr2:178777815;178777814;178777813 | chr2:179642542;179642541;179642540 |
| N2B | 1411 | 4456;4457;4458 | chr2:178777815;178777814;178777813 | chr2:179642542;179642541;179642540 |
| Novex-1 | 1411 | 4456;4457;4458 | chr2:178777815;178777814;178777813 | chr2:179642542;179642541;179642540 |
| Novex-2 | 1411 | 4456;4457;4458 | chr2:178777815;178777814;178777813 | chr2:179642542;179642541;179642540 |
| Novex-3 | 1457 | 4594;4595;4596 | chr2:178777815;178777814;178777813 | chr2:179642542;179642541;179642540 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | None | None | 1.0 | D | 0.827 | 0.709 | 0.816975189348 | gnomAD-4.0.0 | 1.59072E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43271E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.9002 | likely_pathogenic | 0.9041 | pathogenic | -1.814 | Destabilizing | 1.0 | D | 0.827 | deleterious | D | 0.706810558 | None | None | N |
| P/C | 0.9984 | likely_pathogenic | 0.9984 | pathogenic | -1.392 | Destabilizing | 1.0 | D | 0.846 | deleterious | None | None | None | None | N |
| P/D | 0.9989 | likely_pathogenic | 0.999 | pathogenic | -1.888 | Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | N |
| P/E | 0.9985 | likely_pathogenic | 0.9986 | pathogenic | -1.815 | Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | N |
| P/F | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -1.287 | Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| P/G | 0.9935 | likely_pathogenic | 0.9931 | pathogenic | -2.201 | Highly Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | N |
| P/H | 0.9993 | likely_pathogenic | 0.9993 | pathogenic | -1.735 | Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| P/I | 0.9978 | likely_pathogenic | 0.9979 | pathogenic | -0.809 | Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| P/K | 0.9994 | likely_pathogenic | 0.9995 | pathogenic | -1.387 | Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | N |
| P/L | 0.9906 | likely_pathogenic | 0.9903 | pathogenic | -0.809 | Destabilizing | 1.0 | D | 0.875 | deleterious | D | 0.7516498 | None | None | N |
| P/M | 0.9988 | likely_pathogenic | 0.9988 | pathogenic | -0.775 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| P/N | 0.9988 | likely_pathogenic | 0.9988 | pathogenic | -1.352 | Destabilizing | 1.0 | D | 0.872 | deleterious | None | None | None | None | N |
| P/Q | 0.9987 | likely_pathogenic | 0.9988 | pathogenic | -1.45 | Destabilizing | 1.0 | D | 0.867 | deleterious | D | 0.782917086 | None | None | N |
| P/R | 0.9983 | likely_pathogenic | 0.9984 | pathogenic | -0.972 | Destabilizing | 1.0 | D | 0.875 | deleterious | D | 0.782917086 | None | None | N |
| P/S | 0.9925 | likely_pathogenic | 0.9925 | pathogenic | -1.949 | Destabilizing | 1.0 | D | 0.884 | deleterious | D | 0.731554625 | None | None | N |
| P/T | 0.9888 | likely_pathogenic | 0.9899 | pathogenic | -1.76 | Destabilizing | 1.0 | D | 0.879 | deleterious | D | 0.688789396 | None | None | N |
| P/V | 0.9891 | likely_pathogenic | 0.9894 | pathogenic | -1.112 | Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | N |
| P/W | 1.0 | likely_pathogenic | 1.0 | pathogenic | -1.557 | Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| P/Y | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -1.237 | Destabilizing | 1.0 | D | 0.877 | 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.