Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32682 | 98269;98270;98271 | chr2:178540122;178540121;178540120 | chr2:179404849;179404848;179404847 |
| N2AB | 31041 | 93346;93347;93348 | chr2:178540122;178540121;178540120 | chr2:179404849;179404848;179404847 |
| N2A | 30114 | 90565;90566;90567 | chr2:178540122;178540121;178540120 | chr2:179404849;179404848;179404847 |
| N2B | 23617 | 71074;71075;71076 | chr2:178540122;178540121;178540120 | chr2:179404849;179404848;179404847 |
| Novex-1 | 23742 | 71449;71450;71451 | chr2:178540122;178540121;178540120 | chr2:179404849;179404848;179404847 |
| Novex-2 | 23809 | 71650;71651;71652 | chr2:178540122;178540121;178540120 | chr2:179404849;179404848;179404847 |
| 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/R | None | None | 1.0 | D | 0.913 | 0.744 | 0.862739897216 | gnomAD-4.0.0 | 1.59657E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.87175E-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 | 0.6298 | likely_pathogenic | 0.6902 | pathogenic | -0.418 | Destabilizing | 1.0 | D | 0.748 | deleterious | D | 0.559581515 | None | None | N |
| G/C | 0.7125 | likely_pathogenic | 0.7778 | pathogenic | -0.822 | Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| G/D | 0.87 | likely_pathogenic | 0.9067 | pathogenic | -0.955 | Destabilizing | 1.0 | D | 0.906 | deleterious | None | None | None | None | N |
| G/E | 0.8258 | likely_pathogenic | 0.8774 | pathogenic | -1.132 | Destabilizing | 1.0 | D | 0.905 | deleterious | D | 0.544604358 | None | None | N |
| G/F | 0.8819 | likely_pathogenic | 0.9119 | pathogenic | -1.213 | Destabilizing | 1.0 | D | 0.894 | deleterious | None | None | None | None | N |
| G/H | 0.9268 | likely_pathogenic | 0.9514 | pathogenic | -0.692 | Destabilizing | 1.0 | D | 0.864 | deleterious | None | None | None | None | N |
| G/I | 0.8228 | likely_pathogenic | 0.8742 | pathogenic | -0.574 | Destabilizing | 1.0 | D | 0.899 | deleterious | None | None | None | None | N |
| G/K | 0.9015 | likely_pathogenic | 0.9348 | pathogenic | -0.942 | Destabilizing | 1.0 | D | 0.902 | deleterious | None | None | None | None | N |
| G/L | 0.8695 | likely_pathogenic | 0.9058 | pathogenic | -0.574 | Destabilizing | 1.0 | D | 0.876 | deleterious | None | None | None | None | N |
| G/M | 0.9025 | likely_pathogenic | 0.9299 | pathogenic | -0.42 | Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| G/N | 0.8495 | likely_pathogenic | 0.8843 | pathogenic | -0.532 | Destabilizing | 1.0 | D | 0.844 | deleterious | None | None | None | None | N |
| G/P | 0.9953 | likely_pathogenic | 0.9955 | pathogenic | -0.489 | Destabilizing | 1.0 | D | 0.901 | deleterious | None | None | None | None | N |
| G/Q | 0.8515 | likely_pathogenic | 0.891 | pathogenic | -0.89 | Destabilizing | 1.0 | D | 0.911 | deleterious | None | None | None | None | N |
| G/R | 0.8542 | likely_pathogenic | 0.9005 | pathogenic | -0.411 | Destabilizing | 1.0 | D | 0.913 | deleterious | D | 0.559835004 | None | None | N |
| G/S | 0.4972 | ambiguous | 0.5685 | pathogenic | -0.622 | Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| G/T | 0.78 | likely_pathogenic | 0.8257 | pathogenic | -0.745 | Destabilizing | 1.0 | D | 0.903 | deleterious | None | None | None | None | N |
| G/V | 0.7834 | likely_pathogenic | 0.8449 | pathogenic | -0.489 | Destabilizing | 1.0 | D | 0.889 | deleterious | D | 0.535400873 | None | None | N |
| G/W | 0.9066 | likely_pathogenic | 0.9316 | pathogenic | -1.343 | Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | N |
| G/Y | 0.877 | likely_pathogenic | 0.9118 | pathogenic | -1.014 | Destabilizing | 1.0 | D | 0.893 | 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.