Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 23827 | 71704;71705;71706 | chr2:178574653;178574652;178574651 | chr2:179439380;179439379;179439378 |
| N2AB | 22186 | 66781;66782;66783 | chr2:178574653;178574652;178574651 | chr2:179439380;179439379;179439378 |
| N2A | 21259 | 64000;64001;64002 | chr2:178574653;178574652;178574651 | chr2:179439380;179439379;179439378 |
| N2B | 14762 | 44509;44510;44511 | chr2:178574653;178574652;178574651 | chr2:179439380;179439379;179439378 |
| Novex-1 | 14887 | 44884;44885;44886 | chr2:178574653;178574652;178574651 | chr2:179439380;179439379;179439378 |
| Novex-2 | 14954 | 45085;45086;45087 | chr2:178574653;178574652;178574651 | chr2:179439380;179439379;179439378 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | None | None | 0.999 | D | 0.827 | 0.551 | 0.528561964389 | gnomAD-4.0.0 | 3.42253E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.4986E-06 | 0 | 0 |
| P/L | None | None | 1.0 | D | 0.835 | 0.55 | 0.813230711283 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.66327E-05 |
| P/S | None | None | 1.0 | D | 0.788 | 0.56 | 0.524843318063 | gnomAD-4.0.0 | 6.84507E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99721E-07 | 0 | 0 |
| P/T | rs756520908  |
-2.062 | 1.0 | D | 0.797 | 0.555 | 0.701169920833 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.28E-05 | None | 0 | 0 | 0 |
| P/T | rs756520908 |
-2.062 | 1.0 | D | 0.797 | 0.555 | 0.701169920833 | gnomAD-4.0.0 | 1.36901E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99721E-07 | 1.16079E-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 | 0.8162 | likely_pathogenic | 0.8594 | pathogenic | -1.526 | Destabilizing | 0.999 | D | 0.827 | deleterious | D | 0.533201011 | None | None | N |
| P/C | 0.9871 | likely_pathogenic | 0.9893 | pathogenic | -1.767 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | N |
| P/D | 0.9993 | likely_pathogenic | 0.9992 | pathogenic | -2.431 | Highly Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | N |
| P/E | 0.9978 | likely_pathogenic | 0.9973 | pathogenic | -2.425 | Highly Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| P/F | 0.9995 | likely_pathogenic | 0.9995 | pathogenic | -1.427 | Destabilizing | 1.0 | D | 0.824 | deleterious | None | None | None | None | N |
| P/G | 0.9923 | likely_pathogenic | 0.9925 | pathogenic | -1.806 | Destabilizing | 1.0 | D | 0.808 | deleterious | None | None | None | None | N |
| P/H | 0.9972 | likely_pathogenic | 0.9971 | pathogenic | -1.207 | Destabilizing | 1.0 | D | 0.789 | deleterious | D | 0.552572714 | None | None | N |
| P/I | 0.9909 | likely_pathogenic | 0.9917 | pathogenic | -0.845 | Destabilizing | 1.0 | D | 0.769 | deleterious | None | None | None | None | N |
| P/K | 0.9986 | likely_pathogenic | 0.9982 | pathogenic | -1.298 | Destabilizing | 1.0 | D | 0.804 | deleterious | None | None | None | None | N |
| P/L | 0.9621 | likely_pathogenic | 0.962 | pathogenic | -0.845 | Destabilizing | 1.0 | D | 0.835 | deleterious | D | 0.538516929 | None | None | N |
| P/M | 0.9952 | likely_pathogenic | 0.9955 | pathogenic | -0.894 | Destabilizing | 1.0 | D | 0.788 | deleterious | None | None | None | None | N |
| P/N | 0.9991 | likely_pathogenic | 0.9991 | pathogenic | -1.387 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| P/Q | 0.9958 | likely_pathogenic | 0.9955 | pathogenic | -1.652 | Destabilizing | 1.0 | D | 0.844 | deleterious | None | None | None | None | N |
| P/R | 0.9939 | likely_pathogenic | 0.9925 | pathogenic | -0.741 | Destabilizing | 1.0 | D | 0.831 | deleterious | D | 0.540291355 | None | None | N |
| P/S | 0.9813 | likely_pathogenic | 0.9843 | pathogenic | -1.827 | Destabilizing | 1.0 | D | 0.788 | deleterious | D | 0.52868156 | None | None | N |
| P/T | 0.9759 | likely_pathogenic | 0.9792 | pathogenic | -1.718 | Destabilizing | 1.0 | D | 0.797 | deleterious | D | 0.539784376 | None | None | N |
| P/V | 0.9731 | likely_pathogenic | 0.9774 | pathogenic | -1.042 | Destabilizing | 1.0 | D | 0.846 | deleterious | None | None | None | None | N |
| P/W | 0.9998 | likely_pathogenic | 0.9997 | pathogenic | -1.591 | Destabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | N |
| P/Y | 0.9995 | likely_pathogenic | 0.9995 | pathogenic | -1.245 | Destabilizing | 1.0 | D | 0.831 | 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.