Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 14073 | 42442;42443;42444 | chr2:178634564;178634563;178634562 | chr2:179499291;179499290;179499289 |
| N2AB | 12432 | 37519;37520;37521 | chr2:178634564;178634563;178634562 | chr2:179499291;179499290;179499289 |
| N2A | 11505 | 34738;34739;34740 | chr2:178634564;178634563;178634562 | chr2:179499291;179499290;179499289 |
| N2B | 5008 | 15247;15248;15249 | chr2:178634564;178634563;178634562 | chr2:179499291;179499290;179499289 |
| Novex-1 | 5133 | 15622;15623;15624 | chr2:178634564;178634563;178634562 | chr2:179499291;179499290;179499289 |
| Novex-2 | 5200 | 15823;15824;15825 | chr2:178634564;178634563;178634562 | chr2:179499291;179499290;179499289 |
| 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/L | None | None | 0.999 | N | 0.654 | 0.544 | 0.438278051908 | gnomAD-4.0.0 | 1.36878E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.7993E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/A | 0.9965 | likely_pathogenic | 0.9956 | pathogenic | -2.005 | Highly Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| F/C | 0.9897 | likely_pathogenic | 0.9859 | pathogenic | -0.941 | Destabilizing | 1.0 | D | 0.881 | deleterious | D | 0.778796929 | None | None | N |
| F/D | 0.9996 | likely_pathogenic | 0.9995 | pathogenic | -2.971 | Highly Destabilizing | 1.0 | D | 0.901 | deleterious | None | None | None | None | N |
| F/E | 0.9993 | likely_pathogenic | 0.9992 | pathogenic | -2.716 | Highly Destabilizing | 1.0 | D | 0.905 | deleterious | None | None | None | None | N |
| F/G | 0.9978 | likely_pathogenic | 0.9974 | pathogenic | -2.471 | Highly Destabilizing | 1.0 | D | 0.902 | deleterious | None | None | None | None | N |
| F/H | 0.9964 | likely_pathogenic | 0.9961 | pathogenic | -1.722 | Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| F/I | 0.9108 | likely_pathogenic | 0.89 | pathogenic | -0.479 | Destabilizing | 1.0 | D | 0.804 | deleterious | D | 0.620615257 | None | None | N |
| F/K | 0.999 | likely_pathogenic | 0.9987 | pathogenic | -1.7 | Destabilizing | 1.0 | D | 0.903 | deleterious | None | None | None | None | N |
| F/L | 0.9612 | likely_pathogenic | 0.956 | pathogenic | -0.479 | Destabilizing | 0.999 | D | 0.654 | neutral | N | 0.505925338 | None | None | N |
| F/M | 0.92 | likely_pathogenic | 0.8944 | pathogenic | -0.269 | Destabilizing | 1.0 | D | 0.798 | deleterious | None | None | None | None | N |
| F/N | 0.9988 | likely_pathogenic | 0.9985 | pathogenic | -2.438 | Highly Destabilizing | 1.0 | D | 0.913 | deleterious | None | None | None | None | N |
| F/P | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -1.001 | Destabilizing | 1.0 | D | 0.919 | deleterious | None | None | None | None | N |
| F/Q | 0.9987 | likely_pathogenic | 0.9983 | pathogenic | -2.146 | Highly Destabilizing | 1.0 | D | 0.916 | deleterious | None | None | None | None | N |
| F/R | 0.9974 | likely_pathogenic | 0.9969 | pathogenic | -1.804 | Destabilizing | 1.0 | D | 0.913 | deleterious | None | None | None | None | N |
| F/S | 0.9985 | likely_pathogenic | 0.9981 | pathogenic | -2.82 | Highly Destabilizing | 1.0 | D | 0.897 | deleterious | D | 0.778796929 | None | None | N |
| F/T | 0.9982 | likely_pathogenic | 0.9977 | pathogenic | -2.434 | Highly Destabilizing | 1.0 | D | 0.895 | deleterious | None | None | None | None | N |
| F/V | 0.9528 | likely_pathogenic | 0.9391 | pathogenic | -1.001 | Destabilizing | 1.0 | D | 0.798 | deleterious | D | 0.704064822 | None | None | N |
| F/W | 0.9507 | likely_pathogenic | 0.9508 | pathogenic | 0.031 | Stabilizing | 1.0 | D | 0.775 | deleterious | None | None | None | None | N |
| F/Y | 0.8211 | likely_pathogenic | 0.8021 | pathogenic | -0.326 | Destabilizing | 0.999 | D | 0.622 | neutral | D | 0.742150917 | 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.