Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31641 | 95146;95147;95148 | chr2:178546410;178546409;178546408 | chr2:179411137;179411136;179411135 |
| N2AB | 30000 | 90223;90224;90225 | chr2:178546410;178546409;178546408 | chr2:179411137;179411136;179411135 |
| N2A | 29073 | 87442;87443;87444 | chr2:178546410;178546409;178546408 | chr2:179411137;179411136;179411135 |
| N2B | 22576 | 67951;67952;67953 | chr2:178546410;178546409;178546408 | chr2:179411137;179411136;179411135 |
| Novex-1 | 22701 | 68326;68327;68328 | chr2:178546410;178546409;178546408 | chr2:179411137;179411136;179411135 |
| Novex-2 | 22768 | 68527;68528;68529 | chr2:178546410;178546409;178546408 | chr2:179411137;179411136;179411135 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/S | None | None | 1.0 | D | 0.811 | 0.834 | 0.577797438266 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.8874 | likely_pathogenic | 0.8976 | pathogenic | -0.263 | Destabilizing | 1.0 | D | 0.757 | deleterious | D | 0.578091325 | None | None | I |
| G/C | 0.9698 | likely_pathogenic | 0.9754 | pathogenic | -0.776 | Destabilizing | 1.0 | D | 0.704 | prob.neutral | D | 0.645811965 | None | None | I |
| G/D | 0.9958 | likely_pathogenic | 0.9967 | pathogenic | -0.783 | Destabilizing | 1.0 | D | 0.797 | deleterious | D | 0.628581778 | None | None | I |
| G/E | 0.9973 | likely_pathogenic | 0.9976 | pathogenic | -0.95 | Destabilizing | 1.0 | D | 0.773 | deleterious | None | None | None | None | I |
| G/F | 0.9969 | likely_pathogenic | 0.9968 | pathogenic | -1.018 | Destabilizing | 1.0 | D | 0.749 | deleterious | None | None | None | None | I |
| G/H | 0.9991 | likely_pathogenic | 0.9992 | pathogenic | -0.561 | Destabilizing | 1.0 | D | 0.695 | prob.neutral | None | None | None | None | I |
| G/I | 0.9961 | likely_pathogenic | 0.9961 | pathogenic | -0.413 | Destabilizing | 1.0 | D | 0.757 | deleterious | None | None | None | None | I |
| G/K | 0.999 | likely_pathogenic | 0.9992 | pathogenic | -0.9 | Destabilizing | 1.0 | D | 0.774 | deleterious | None | None | None | None | I |
| G/L | 0.9963 | likely_pathogenic | 0.9966 | pathogenic | -0.413 | Destabilizing | 1.0 | D | 0.762 | deleterious | None | None | None | None | I |
| G/M | 0.9981 | likely_pathogenic | 0.9981 | pathogenic | -0.485 | Destabilizing | 1.0 | D | 0.697 | prob.neutral | None | None | None | None | I |
| G/N | 0.9975 | likely_pathogenic | 0.9978 | pathogenic | -0.437 | Destabilizing | 1.0 | D | 0.806 | deleterious | None | None | None | None | I |
| G/P | 0.9994 | likely_pathogenic | 0.9994 | pathogenic | -0.331 | Destabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | I |
| G/Q | 0.998 | likely_pathogenic | 0.998 | pathogenic | -0.749 | Destabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | I |
| G/R | 0.9959 | likely_pathogenic | 0.9963 | pathogenic | -0.424 | Destabilizing | 1.0 | D | 0.782 | deleterious | D | 0.645408356 | None | None | I |
| G/S | 0.9198 | likely_pathogenic | 0.9332 | pathogenic | -0.528 | Destabilizing | 1.0 | D | 0.811 | deleterious | D | 0.607424434 | None | None | I |
| G/T | 0.9916 | likely_pathogenic | 0.9928 | pathogenic | -0.637 | Destabilizing | 1.0 | D | 0.769 | deleterious | None | None | None | None | I |
| G/V | 0.992 | likely_pathogenic | 0.9924 | pathogenic | -0.331 | Destabilizing | 1.0 | D | 0.756 | deleterious | D | 0.629388995 | None | None | I |
| G/W | 0.9949 | likely_pathogenic | 0.9952 | pathogenic | -1.18 | Destabilizing | 1.0 | D | 0.705 | prob.neutral | None | None | None | None | I |
| G/Y | 0.9975 | likely_pathogenic | 0.9976 | pathogenic | -0.837 | Destabilizing | 1.0 | D | 0.738 | prob.delet. | None | None | None | None | I |
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.