Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 1586 | 4981;4982;4983 | chr2:178777207;178777206;178777205 | chr2:179641934;179641933;179641932 |
| N2AB | 1586 | 4981;4982;4983 | chr2:178777207;178777206;178777205 | chr2:179641934;179641933;179641932 |
| N2A | 1586 | 4981;4982;4983 | chr2:178777207;178777206;178777205 | chr2:179641934;179641933;179641932 |
| N2B | 1540 | 4843;4844;4845 | chr2:178777207;178777206;178777205 | chr2:179641934;179641933;179641932 |
| Novex-1 | 1540 | 4843;4844;4845 | chr2:178777207;178777206;178777205 | chr2:179641934;179641933;179641932 |
| Novex-2 | 1540 | 4843;4844;4845 | chr2:178777207;178777206;178777205 | chr2:179641934;179641933;179641932 |
| Novex-3 | 1586 | 4981;4982;4983 | chr2:178777207;178777206;178777205 | chr2:179641934;179641933;179641932 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/E | None | None | 1.0 | N | 0.509 | 0.291 | 0.402755899245 | 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 |
| D/V | rs2092325791  |
None | 1.0 | N | 0.811 | 0.696 | 0.597483089494 | gnomAD-4.0.0 | 2.05227E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 4.96738E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.7723 | likely_pathogenic | 0.6263 | pathogenic | -0.447 | Destabilizing | 1.0 | D | 0.775 | deleterious | N | 0.510311447 | None | None | I |
| D/C | 0.9906 | likely_pathogenic | 0.9777 | pathogenic | -0.214 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | I |
| D/E | 0.5884 | likely_pathogenic | 0.4108 | ambiguous | -0.727 | Destabilizing | 1.0 | D | 0.509 | neutral | N | 0.445352492 | None | None | I |
| D/F | 0.975 | likely_pathogenic | 0.9456 | pathogenic | -0.244 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | I |
| D/G | 0.8809 | likely_pathogenic | 0.75 | pathogenic | -0.75 | Destabilizing | 1.0 | D | 0.773 | deleterious | D | 0.543018393 | None | None | I |
| D/H | 0.9131 | likely_pathogenic | 0.8379 | pathogenic | -0.544 | Destabilizing | 1.0 | D | 0.765 | deleterious | N | 0.50832044 | None | None | I |
| D/I | 0.9299 | likely_pathogenic | 0.8535 | pathogenic | 0.332 | Stabilizing | 1.0 | D | 0.806 | deleterious | None | None | None | None | I |
| D/K | 0.9579 | likely_pathogenic | 0.9092 | pathogenic | -0.416 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | I |
| D/L | 0.9299 | likely_pathogenic | 0.8676 | pathogenic | 0.332 | Stabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | I |
| D/M | 0.9745 | likely_pathogenic | 0.9389 | pathogenic | 0.655 | Stabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | I |
| D/N | 0.5187 | ambiguous | 0.3663 | ambiguous | -0.717 | Destabilizing | 1.0 | D | 0.679 | prob.neutral | N | 0.509237744 | None | None | I |
| D/P | 0.9953 | likely_pathogenic | 0.9891 | pathogenic | 0.097 | Stabilizing | 1.0 | D | 0.802 | deleterious | None | None | None | None | I |
| D/Q | 0.9118 | likely_pathogenic | 0.8267 | pathogenic | -0.617 | Destabilizing | 1.0 | D | 0.713 | prob.delet. | None | None | None | None | I |
| D/R | 0.9541 | likely_pathogenic | 0.9107 | pathogenic | -0.255 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | I |
| D/S | 0.6232 | likely_pathogenic | 0.4647 | ambiguous | -0.901 | Destabilizing | 1.0 | D | 0.692 | prob.neutral | None | None | None | None | I |
| D/T | 0.8563 | likely_pathogenic | 0.7168 | pathogenic | -0.67 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | I |
| D/V | 0.8134 | likely_pathogenic | 0.6805 | pathogenic | 0.097 | Stabilizing | 1.0 | D | 0.811 | deleterious | N | 0.500052215 | None | None | I |
| D/W | 0.9964 | likely_pathogenic | 0.9917 | pathogenic | -0.133 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | I |
| D/Y | 0.8678 | likely_pathogenic | 0.7715 | pathogenic | -0.042 | Destabilizing | 1.0 | D | 0.805 | deleterious | D | 0.561011047 | 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.