Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33517 | 100774;100775;100776 | chr2:178536198;178536197;178536196 | chr2:179400925;179400924;179400923 |
| N2AB | 31876 | 95851;95852;95853 | chr2:178536198;178536197;178536196 | chr2:179400925;179400924;179400923 |
| N2A | 30949 | 93070;93071;93072 | chr2:178536198;178536197;178536196 | chr2:179400925;179400924;179400923 |
| N2B | 24452 | 73579;73580;73581 | chr2:178536198;178536197;178536196 | chr2:179400925;179400924;179400923 |
| Novex-1 | 24577 | 73954;73955;73956 | chr2:178536198;178536197;178536196 | chr2:179400925;179400924;179400923 |
| Novex-2 | 24644 | 74155;74156;74157 | chr2:178536198;178536197;178536196 | chr2:179400925;179400924;179400923 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/G | None | None | 1.0 | D | 0.841 | 0.716 | 0.915607148917 | gnomAD-4.0.0 | 6.84423E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99637E-07 | 0 | 0 |
| C/S | None | None | 0.998 | D | 0.803 | 0.741 | 0.890437381508 | gnomAD-4.0.0 | 6.84423E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 1.7343E-04 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/A | 0.8387 | likely_pathogenic | 0.8153 | pathogenic | -1.043 | Destabilizing | 0.997 | D | 0.673 | neutral | None | None | None | None | N |
| C/D | 0.9996 | likely_pathogenic | 0.9995 | pathogenic | -1.592 | Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | N |
| C/E | 0.9998 | likely_pathogenic | 0.9997 | pathogenic | -1.324 | Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | N |
| C/F | 0.9265 | likely_pathogenic | 0.9019 | pathogenic | -0.55 | Destabilizing | 0.999 | D | 0.799 | deleterious | D | 0.587927938 | None | None | N |
| C/G | 0.7984 | likely_pathogenic | 0.7766 | pathogenic | -1.4 | Destabilizing | 1.0 | D | 0.841 | deleterious | D | 0.591410407 | None | None | N |
| C/H | 0.9988 | likely_pathogenic | 0.9983 | pathogenic | -1.695 | Destabilizing | 0.999 | D | 0.889 | deleterious | None | None | None | None | N |
| C/I | 0.9317 | likely_pathogenic | 0.9107 | pathogenic | -0.066 | Destabilizing | 1.0 | D | 0.814 | deleterious | None | None | None | None | N |
| C/K | 0.9999 | likely_pathogenic | 0.9998 | pathogenic | -0.632 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| C/L | 0.9072 | likely_pathogenic | 0.8812 | pathogenic | -0.066 | Destabilizing | 1.0 | D | 0.761 | deleterious | None | None | None | None | N |
| C/M | 0.9609 | likely_pathogenic | 0.9512 | pathogenic | 0.265 | Stabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | N |
| C/N | 0.9964 | likely_pathogenic | 0.9951 | pathogenic | -1.503 | Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | N |
| C/P | 0.9997 | likely_pathogenic | 0.9996 | pathogenic | -0.371 | Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | N |
| C/Q | 0.999 | likely_pathogenic | 0.9987 | pathogenic | -0.916 | Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | N |
| C/R | 0.9984 | likely_pathogenic | 0.998 | pathogenic | -1.297 | Destabilizing | 1.0 | D | 0.871 | deleterious | D | 0.633401849 | None | None | N |
| C/S | 0.8856 | likely_pathogenic | 0.8702 | pathogenic | -1.641 | Destabilizing | 0.998 | D | 0.803 | deleterious | D | 0.607661933 | None | None | N |
| C/T | 0.8682 | likely_pathogenic | 0.8359 | pathogenic | -1.194 | Destabilizing | 0.999 | D | 0.801 | deleterious | None | None | None | None | N |
| C/V | 0.7967 | likely_pathogenic | 0.7533 | pathogenic | -0.371 | Destabilizing | 0.998 | D | 0.772 | deleterious | None | None | None | None | N |
| C/W | 0.997 | likely_pathogenic | 0.9956 | pathogenic | -1.085 | Destabilizing | 1.0 | D | 0.857 | deleterious | D | 0.633603653 | None | None | N |
| C/Y | 0.9908 | likely_pathogenic | 0.9875 | pathogenic | -0.781 | Destabilizing | 0.852 | D | 0.637 | neutral | D | 0.617150323 | 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.