Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 1101 | 3526;3527;3528 | chr2:178782291;178782290;178782289 | chr2:179647018;179647017;179647016 |
| N2AB | 1101 | 3526;3527;3528 | chr2:178782291;178782290;178782289 | chr2:179647018;179647017;179647016 |
| N2A | 1101 | 3526;3527;3528 | chr2:178782291;178782290;178782289 | chr2:179647018;179647017;179647016 |
| N2B | 1055 | 3388;3389;3390 | chr2:178782291;178782290;178782289 | chr2:179647018;179647017;179647016 |
| Novex-1 | 1055 | 3388;3389;3390 | chr2:178782291;178782290;178782289 | chr2:179647018;179647017;179647016 |
| Novex-2 | 1055 | 3388;3389;3390 | chr2:178782291;178782290;178782289 | chr2:179647018;179647017;179647016 |
| Novex-3 | 1101 | 3526;3527;3528 | chr2:178782291;178782290;178782289 | chr2:179647018;179647017;179647016 |
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 | rs764124432  |
-3.593 | 1.0 | D | 0.886 | 0.926 | 0.901273584984 | gnomAD-2.1.1 | 3.98E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.45E-05 | None | 0 | None | 0 | 0 | 0 |
| F/S | rs764124432 |
-3.593 | 1.0 | D | 0.886 | 0.926 | 0.901273584984 | gnomAD-4.0.0 | 1.59051E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.77377E-05 | None | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/A | 0.9972 | likely_pathogenic | 0.9968 | pathogenic | -2.42 | Highly Destabilizing | 1.0 | D | 0.822 | deleterious | None | None | None | None | N |
| F/C | 0.9972 | likely_pathogenic | 0.9962 | pathogenic | -1.419 | Destabilizing | 1.0 | D | 0.846 | deleterious | D | 0.756008242 | None | None | N |
| F/D | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -3.372 | Highly Destabilizing | 1.0 | D | 0.889 | deleterious | None | None | None | None | N |
| F/E | 0.9997 | likely_pathogenic | 0.9997 | pathogenic | -3.115 | Highly Destabilizing | 1.0 | D | 0.892 | deleterious | None | None | None | None | N |
| F/G | 0.999 | likely_pathogenic | 0.9989 | pathogenic | -2.9 | Highly Destabilizing | 1.0 | D | 0.895 | deleterious | None | None | None | None | N |
| F/H | 0.9981 | likely_pathogenic | 0.9981 | pathogenic | -2.051 | Highly Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| F/I | 0.9477 | likely_pathogenic | 0.9372 | pathogenic | -0.839 | Destabilizing | 1.0 | D | 0.796 | deleterious | D | 0.522869713 | None | None | N |
| F/K | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -2.051 | Highly Destabilizing | 1.0 | D | 0.89 | deleterious | None | None | None | None | N |
| F/L | 0.988 | likely_pathogenic | 0.9859 | pathogenic | -0.839 | Destabilizing | 0.999 | D | 0.705 | prob.neutral | N | 0.484027574 | None | None | N |
| F/M | 0.9766 | likely_pathogenic | 0.9726 | pathogenic | -0.658 | Destabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | N |
| F/N | 0.9995 | likely_pathogenic | 0.9995 | pathogenic | -2.779 | Highly Destabilizing | 1.0 | D | 0.893 | deleterious | None | None | None | None | N |
| F/P | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -1.382 | Destabilizing | 1.0 | D | 0.9 | deleterious | None | None | None | None | N |
| F/Q | 0.9996 | likely_pathogenic | 0.9995 | pathogenic | -2.523 | Highly Destabilizing | 1.0 | D | 0.897 | deleterious | None | None | None | None | N |
| F/R | 0.9992 | likely_pathogenic | 0.9992 | pathogenic | -2.026 | Highly Destabilizing | 1.0 | D | 0.895 | deleterious | None | None | None | None | N |
| F/S | 0.9986 | likely_pathogenic | 0.9985 | pathogenic | -3.208 | Highly Destabilizing | 1.0 | D | 0.886 | deleterious | D | 0.756008242 | None | None | N |
| F/T | 0.998 | likely_pathogenic | 0.9978 | pathogenic | -2.817 | Highly Destabilizing | 1.0 | D | 0.885 | deleterious | None | None | None | None | N |
| F/V | 0.9729 | likely_pathogenic | 0.9677 | pathogenic | -1.382 | Destabilizing | 1.0 | D | 0.769 | deleterious | D | 0.583163696 | None | None | N |
| F/W | 0.9647 | likely_pathogenic | 0.9618 | pathogenic | -0.226 | Destabilizing | 1.0 | D | 0.758 | deleterious | None | None | None | None | N |
| F/Y | 0.9052 | likely_pathogenic | 0.8949 | pathogenic | -0.642 | Destabilizing | 0.999 | D | 0.622 | neutral | D | 0.71848647 | 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.