Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 22062 | 66409;66410;66411 | chr2:178582185;178582184;178582183 | chr2:179446912;179446911;179446910 |
| N2AB | 20421 | 61486;61487;61488 | chr2:178582185;178582184;178582183 | chr2:179446912;179446911;179446910 |
| N2A | 19494 | 58705;58706;58707 | chr2:178582185;178582184;178582183 | chr2:179446912;179446911;179446910 |
| N2B | 12997 | 39214;39215;39216 | chr2:178582185;178582184;178582183 | chr2:179446912;179446911;179446910 |
| Novex-1 | 13122 | 39589;39590;39591 | chr2:178582185;178582184;178582183 | chr2:179446912;179446911;179446910 |
| Novex-2 | 13189 | 39790;39791;39792 | chr2:178582185;178582184;178582183 | chr2:179446912;179446911;179446910 |
| 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/S | None | None | 1.0 | N | 0.797 | 0.468 | 0.440810947182 | gnomAD-4.0.0 | 2.7387E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.59892E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.7856 | likely_pathogenic | 0.7337 | pathogenic | -2.059 | Highly Destabilizing | 1.0 | D | 0.763 | deleterious | N | 0.517412663 | None | None | N |
| P/C | 0.9807 | likely_pathogenic | 0.9773 | pathogenic | -1.902 | Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| P/D | 0.9994 | likely_pathogenic | 0.9994 | pathogenic | -2.775 | Highly Destabilizing | 1.0 | D | 0.794 | deleterious | None | None | None | None | N |
| P/E | 0.998 | likely_pathogenic | 0.9973 | pathogenic | -2.557 | Highly Destabilizing | 1.0 | D | 0.802 | deleterious | None | None | None | None | N |
| P/F | 0.9991 | likely_pathogenic | 0.9986 | pathogenic | -1.187 | Destabilizing | 1.0 | D | 0.878 | deleterious | None | None | None | None | N |
| P/G | 0.993 | likely_pathogenic | 0.9907 | pathogenic | -2.567 | Highly Destabilizing | 1.0 | D | 0.786 | deleterious | None | None | None | None | N |
| P/H | 0.9985 | likely_pathogenic | 0.9979 | pathogenic | -2.29 | Highly Destabilizing | 1.0 | D | 0.844 | deleterious | D | 0.536530876 | None | None | N |
| P/I | 0.9052 | likely_pathogenic | 0.8964 | pathogenic | -0.641 | Destabilizing | 1.0 | D | 0.891 | deleterious | None | None | None | None | N |
| P/K | 0.9987 | likely_pathogenic | 0.9985 | pathogenic | -1.576 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | N |
| P/L | 0.7682 | likely_pathogenic | 0.7303 | pathogenic | -0.641 | Destabilizing | 1.0 | D | 0.861 | deleterious | N | 0.491450233 | None | None | N |
| P/M | 0.9765 | likely_pathogenic | 0.9695 | pathogenic | -1.031 | Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| P/N | 0.9989 | likely_pathogenic | 0.9989 | pathogenic | -1.945 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| P/Q | 0.9969 | likely_pathogenic | 0.9955 | pathogenic | -1.793 | Destabilizing | 1.0 | D | 0.858 | deleterious | None | None | None | None | N |
| P/R | 0.9971 | likely_pathogenic | 0.9962 | pathogenic | -1.481 | Destabilizing | 1.0 | D | 0.866 | deleterious | D | 0.536277386 | None | None | N |
| P/S | 0.9907 | likely_pathogenic | 0.9864 | pathogenic | -2.523 | Highly Destabilizing | 1.0 | D | 0.797 | deleterious | N | 0.506563336 | None | None | N |
| P/T | 0.9523 | likely_pathogenic | 0.9415 | pathogenic | -2.166 | Highly Destabilizing | 1.0 | D | 0.802 | deleterious | N | 0.512893212 | None | None | N |
| P/V | 0.7312 | likely_pathogenic | 0.7189 | pathogenic | -1.088 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | N |
| P/W | 0.9999 | likely_pathogenic | 0.9998 | pathogenic | -1.644 | Destabilizing | 1.0 | D | 0.775 | deleterious | None | None | None | None | N |
| P/Y | 0.9996 | likely_pathogenic | 0.9995 | pathogenic | -1.283 | Destabilizing | 1.0 | D | 0.881 | 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.