Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 19061 | 57406;57407;57408 | chr2:178597989;178597988;178597987 | chr2:179462716;179462715;179462714 |
| N2AB | 17420 | 52483;52484;52485 | chr2:178597989;178597988;178597987 | chr2:179462716;179462715;179462714 |
| N2A | 16493 | 49702;49703;49704 | chr2:178597989;178597988;178597987 | chr2:179462716;179462715;179462714 |
| N2B | 9996 | 30211;30212;30213 | chr2:178597989;178597988;178597987 | chr2:179462716;179462715;179462714 |
| Novex-1 | 10121 | 30586;30587;30588 | chr2:178597989;178597988;178597987 | chr2:179462716;179462715;179462714 |
| Novex-2 | 10188 | 30787;30788;30789 | chr2:178597989;178597988;178597987 | chr2:179462716;179462715;179462714 |
| 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/L | None | None | 0.999 | N | 0.693 | 0.525 | 0.430808444494 | gnomAD-4.0.0 | 3.60098E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 6.17284E-04 | 2.62502E-06 | 0 | 0 |
| F/Y | None | None | 0.999 | N | 0.61 | 0.402 | 0.5763749866 | gnomAD-4.0.0 | 1.20034E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.31252E-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 | 0.9966 | likely_pathogenic | 0.9962 | pathogenic | -2.32 | Highly Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | N |
| F/C | 0.9761 | likely_pathogenic | 0.9784 | pathogenic | -1.404 | Destabilizing | 1.0 | D | 0.855 | deleterious | D | 0.546808588 | None | None | N |
| F/D | 0.9997 | likely_pathogenic | 0.9996 | pathogenic | -3.418 | Highly Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| F/E | 0.9996 | likely_pathogenic | 0.9994 | pathogenic | -3.194 | Highly Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| F/G | 0.997 | likely_pathogenic | 0.9965 | pathogenic | -2.732 | Highly Destabilizing | 1.0 | D | 0.846 | deleterious | None | None | None | None | N |
| F/H | 0.9967 | likely_pathogenic | 0.9962 | pathogenic | -2.1 | Highly Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| F/I | 0.8574 | likely_pathogenic | 0.8698 | pathogenic | -0.956 | Destabilizing | 1.0 | D | 0.779 | deleterious | N | 0.491856577 | None | None | N |
| F/K | 0.9995 | likely_pathogenic | 0.9993 | pathogenic | -2.363 | Highly Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| F/L | 0.9847 | likely_pathogenic | 0.9877 | pathogenic | -0.956 | Destabilizing | 0.999 | D | 0.693 | prob.neutral | N | 0.49016151 | None | None | N |
| F/M | 0.9393 | likely_pathogenic | 0.9455 | pathogenic | -0.697 | Destabilizing | 1.0 | D | 0.796 | deleterious | None | None | None | None | N |
| F/N | 0.9987 | likely_pathogenic | 0.9985 | pathogenic | -3.116 | Highly Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | N |
| F/P | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -1.425 | Destabilizing | 1.0 | D | 0.884 | deleterious | None | None | None | None | N |
| F/Q | 0.9992 | likely_pathogenic | 0.9989 | pathogenic | -2.834 | Highly Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | N |
| F/R | 0.9986 | likely_pathogenic | 0.9982 | pathogenic | -2.37 | Highly Destabilizing | 1.0 | D | 0.884 | deleterious | None | None | None | None | N |
| F/S | 0.9983 | likely_pathogenic | 0.9979 | pathogenic | -3.395 | Highly Destabilizing | 1.0 | D | 0.837 | deleterious | D | 0.546808588 | None | None | N |
| F/T | 0.9981 | likely_pathogenic | 0.9977 | pathogenic | -3.051 | Highly Destabilizing | 1.0 | D | 0.836 | deleterious | None | None | None | None | N |
| F/V | 0.913 | likely_pathogenic | 0.9179 | pathogenic | -1.425 | Destabilizing | 1.0 | D | 0.753 | deleterious | N | 0.477027097 | None | None | N |
| F/W | 0.9014 | likely_pathogenic | 0.9125 | pathogenic | -0.587 | Destabilizing | 1.0 | D | 0.764 | deleterious | None | None | None | None | N |
| F/Y | 0.6084 | likely_pathogenic | 0.637 | pathogenic | -0.95 | Destabilizing | 0.999 | D | 0.61 | neutral | N | 0.47987207 | 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.