Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 9717 | 29374;29375;29376 | chr2:178706725;178706724;178706723 | chr2:179571452;179571451;179571450 |
| N2AB | 9400 | 28423;28424;28425 | chr2:178706725;178706724;178706723 | chr2:179571452;179571451;179571450 |
| N2A | 8473 | 25642;25643;25644 | chr2:178706725;178706724;178706723 | chr2:179571452;179571451;179571450 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/S | None | None | 1.0 | None | 0.881 | 0.764 | 0.904332106958 | gnomAD-4.0.0 | 2.40065E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.62501E-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 | 0.9985 | likely_pathogenic | 0.9951 | pathogenic | -2.292 | Highly Destabilizing | 1.0 | D | 0.806 | deleterious | None | None | None | None | N |
| F/C | 0.9924 | likely_pathogenic | 0.9703 | pathogenic | -1.305 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| F/D | 0.9999 | likely_pathogenic | 0.9998 | pathogenic | -3.32 | Highly Destabilizing | 1.0 | D | 0.887 | deleterious | None | None | None | None | N |
| F/E | 0.9999 | likely_pathogenic | 0.9997 | pathogenic | -3.081 | Highly Destabilizing | 1.0 | D | 0.888 | deleterious | None | None | None | None | N |
| F/G | 0.9995 | likely_pathogenic | 0.9981 | pathogenic | -2.728 | Highly Destabilizing | 1.0 | D | 0.89 | deleterious | None | None | None | None | N |
| F/H | 0.9985 | likely_pathogenic | 0.9962 | pathogenic | -2.194 | Highly Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| F/I | 0.9429 | likely_pathogenic | 0.8706 | pathogenic | -0.845 | Destabilizing | 1.0 | D | 0.798 | deleterious | None | None | None | None | N |
| F/K | 0.9999 | likely_pathogenic | 0.9997 | pathogenic | -2.114 | Highly Destabilizing | 1.0 | D | 0.887 | deleterious | None | None | None | None | N |
| F/L | 0.9945 | likely_pathogenic | 0.9758 | pathogenic | -0.845 | Destabilizing | 0.999 | D | 0.685 | prob.neutral | None | None | None | None | N |
| F/M | 0.9799 | likely_pathogenic | 0.9432 | pathogenic | -0.694 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | N |
| F/N | 0.9996 | likely_pathogenic | 0.9989 | pathogenic | -2.858 | Highly Destabilizing | 1.0 | D | 0.889 | deleterious | None | None | None | None | N |
| F/P | 1.0 | likely_pathogenic | 0.9999 | pathogenic | -1.343 | Destabilizing | 1.0 | D | 0.891 | deleterious | None | None | None | None | N |
| F/Q | 0.9997 | likely_pathogenic | 0.9993 | pathogenic | -2.555 | Highly Destabilizing | 1.0 | D | 0.889 | deleterious | None | None | None | None | N |
| F/R | 0.9995 | likely_pathogenic | 0.9987 | pathogenic | -2.223 | Highly Destabilizing | 1.0 | D | 0.888 | deleterious | None | None | None | None | N |
| F/S | 0.9994 | likely_pathogenic | 0.9973 | pathogenic | -3.155 | Highly Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | N |
| F/T | 0.9993 | likely_pathogenic | 0.9978 | pathogenic | -2.788 | Highly Destabilizing | 1.0 | D | 0.88 | deleterious | None | None | None | None | N |
| F/V | 0.9569 | likely_pathogenic | 0.8852 | pathogenic | -1.343 | Destabilizing | 1.0 | D | 0.763 | deleterious | None | None | None | None | N |
| F/W | 0.9822 | likely_pathogenic | 0.9615 | pathogenic | -0.457 | Destabilizing | 1.0 | D | 0.77 | deleterious | None | None | None | None | N |
| F/Y | 0.9031 | likely_pathogenic | 0.7656 | pathogenic | -0.859 | Destabilizing | 0.999 | D | 0.618 | neutral | 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.