Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2328 | 7207;7208;7209 | chr2:178774282;178774281;178774280 | chr2:179639009;179639008;179639007 |
| N2AB | 2328 | 7207;7208;7209 | chr2:178774282;178774281;178774280 | chr2:179639009;179639008;179639007 |
| N2A | 2328 | 7207;7208;7209 | chr2:178774282;178774281;178774280 | chr2:179639009;179639008;179639007 |
| N2B | 2282 | 7069;7070;7071 | chr2:178774282;178774281;178774280 | chr2:179639009;179639008;179639007 |
| Novex-1 | 2282 | 7069;7070;7071 | chr2:178774282;178774281;178774280 | chr2:179639009;179639008;179639007 |
| Novex-2 | 2282 | 7069;7070;7071 | chr2:178774282;178774281;178774280 | chr2:179639009;179639008;179639007 |
| Novex-3 | 2328 | 7207;7208;7209 | chr2:178774282;178774281;178774280 | chr2:179639009;179639008;179639007 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | rs997288701  |
None | 0.977 | N | 0.523 | 0.484 | 0.67495869481 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| V/A | rs997288701 |
None | 0.977 | N | 0.523 | 0.484 | 0.67495869481 | gnomAD-4.0.0 | 6.57307E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.47016E-05 | 0 | 0 |
| V/I | rs2091939887 |
None | 0.117 | D | 0.325 | 0.303 | 0.478828542108 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/I | rs2091939887 |
None | 0.117 | D | 0.325 | 0.303 | 0.478828542108 | gnomAD-4.0.0 | 1.85875E-06 | None | None | None | None | N | None | 1.33476E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.09791E-05 | 1.60036E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.5634 | ambiguous | 0.6066 | pathogenic | -1.902 | Destabilizing | 0.977 | D | 0.523 | neutral | N | 0.507462107 | None | None | N |
| V/C | 0.9138 | likely_pathogenic | 0.9189 | pathogenic | -2.401 | Highly Destabilizing | 1.0 | D | 0.772 | deleterious | None | None | None | None | N |
| V/D | 0.9916 | likely_pathogenic | 0.9937 | pathogenic | -3.454 | Highly Destabilizing | 0.999 | D | 0.802 | deleterious | None | None | None | None | N |
| V/E | 0.9847 | likely_pathogenic | 0.9881 | pathogenic | -3.341 | Highly Destabilizing | 0.999 | D | 0.79 | deleterious | D | 0.685900862 | None | None | N |
| V/F | 0.8539 | likely_pathogenic | 0.8761 | pathogenic | -1.255 | Destabilizing | 0.995 | D | 0.803 | deleterious | None | None | None | None | N |
| V/G | 0.8468 | likely_pathogenic | 0.8792 | pathogenic | -2.269 | Highly Destabilizing | 0.999 | D | 0.783 | deleterious | D | 0.685900862 | None | None | N |
| V/H | 0.9947 | likely_pathogenic | 0.9958 | pathogenic | -1.649 | Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | N |
| V/I | 0.0988 | likely_benign | 0.0965 | benign | -0.916 | Destabilizing | 0.117 | N | 0.325 | neutral | D | 0.581320694 | None | None | N |
| V/K | 0.9899 | likely_pathogenic | 0.9918 | pathogenic | -1.795 | Destabilizing | 0.998 | D | 0.791 | deleterious | None | None | None | None | N |
| V/L | 0.6536 | likely_pathogenic | 0.6755 | pathogenic | -0.916 | Destabilizing | 0.898 | D | 0.489 | neutral | D | 0.52452837 | None | None | N |
| V/M | 0.5081 | ambiguous | 0.5402 | ambiguous | -1.271 | Destabilizing | 0.995 | D | 0.765 | deleterious | None | None | None | None | N |
| V/N | 0.953 | likely_pathogenic | 0.9608 | pathogenic | -2.187 | Highly Destabilizing | 0.999 | D | 0.812 | deleterious | None | None | None | None | N |
| V/P | 0.9736 | likely_pathogenic | 0.9799 | pathogenic | -1.22 | Destabilizing | 0.999 | D | 0.803 | deleterious | None | None | None | None | N |
| V/Q | 0.9838 | likely_pathogenic | 0.9871 | pathogenic | -2.261 | Highly Destabilizing | 0.999 | D | 0.805 | deleterious | None | None | None | None | N |
| V/R | 0.9822 | likely_pathogenic | 0.9856 | pathogenic | -1.363 | Destabilizing | 0.999 | D | 0.808 | deleterious | None | None | None | None | N |
| V/S | 0.8061 | likely_pathogenic | 0.8357 | pathogenic | -2.601 | Highly Destabilizing | 0.998 | D | 0.781 | deleterious | None | None | None | None | N |
| V/T | 0.6235 | likely_pathogenic | 0.6546 | pathogenic | -2.378 | Highly Destabilizing | 0.983 | D | 0.661 | neutral | None | None | None | None | N |
| V/W | 0.9979 | likely_pathogenic | 0.9983 | pathogenic | -1.598 | Destabilizing | 1.0 | D | 0.753 | deleterious | None | None | None | None | N |
| V/Y | 0.9881 | likely_pathogenic | 0.9905 | pathogenic | -1.305 | Destabilizing | 0.999 | D | 0.809 | 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.