Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2607 | 8044;8045;8046 | chr2:178773145;178773144;178773143 | chr2:179637872;179637871;179637870 |
| N2AB | 2607 | 8044;8045;8046 | chr2:178773145;178773144;178773143 | chr2:179637872;179637871;179637870 |
| N2A | 2607 | 8044;8045;8046 | chr2:178773145;178773144;178773143 | chr2:179637872;179637871;179637870 |
| N2B | 2561 | 7906;7907;7908 | chr2:178773145;178773144;178773143 | chr2:179637872;179637871;179637870 |
| Novex-1 | 2561 | 7906;7907;7908 | chr2:178773145;178773144;178773143 | chr2:179637872;179637871;179637870 |
| Novex-2 | 2561 | 7906;7907;7908 | chr2:178773145;178773144;178773143 | chr2:179637872;179637871;179637870 |
| Novex-3 | 2607 | 8044;8045;8046 | chr2:178773145;178773144;178773143 | chr2:179637872;179637871;179637870 |
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 | rs1214151889  |
None | 1.0 | D | 0.811 | 0.677 | 0.667381685972 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | 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 | 0.4456 | ambiguous | 0.4286 | ambiguous | -0.208 | Destabilizing | 1.0 | D | 0.697 | prob.neutral | D | 0.541938377 | None | None | N |
| G/C | 0.7702 | likely_pathogenic | 0.7484 | pathogenic | -0.852 | Destabilizing | 1.0 | D | 0.763 | deleterious | None | None | None | None | N |
| G/D | 0.8134 | likely_pathogenic | 0.8119 | pathogenic | -0.655 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | N |
| G/E | 0.8376 | likely_pathogenic | 0.8338 | pathogenic | -0.804 | Destabilizing | 1.0 | D | 0.834 | deleterious | N | 0.509878079 | None | None | N |
| G/F | 0.9613 | likely_pathogenic | 0.9568 | pathogenic | -0.917 | Destabilizing | 1.0 | D | 0.759 | deleterious | None | None | None | None | N |
| G/H | 0.9341 | likely_pathogenic | 0.93 | pathogenic | -0.422 | Destabilizing | 1.0 | D | 0.782 | deleterious | None | None | None | None | N |
| G/I | 0.9414 | likely_pathogenic | 0.9369 | pathogenic | -0.342 | Destabilizing | 1.0 | D | 0.764 | deleterious | None | None | None | None | N |
| G/K | 0.8841 | likely_pathogenic | 0.8739 | pathogenic | -0.819 | Destabilizing | 1.0 | D | 0.834 | deleterious | None | None | None | None | N |
| G/L | 0.9054 | likely_pathogenic | 0.8987 | pathogenic | -0.342 | Destabilizing | 1.0 | D | 0.782 | deleterious | None | None | None | None | N |
| G/M | 0.9373 | likely_pathogenic | 0.9314 | pathogenic | -0.551 | Destabilizing | 1.0 | D | 0.763 | deleterious | None | None | None | None | N |
| G/N | 0.8483 | likely_pathogenic | 0.8403 | pathogenic | -0.45 | Destabilizing | 1.0 | D | 0.78 | deleterious | None | None | None | None | N |
| G/P | 0.9881 | likely_pathogenic | 0.9883 | pathogenic | -0.266 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | N |
| G/Q | 0.8497 | likely_pathogenic | 0.8423 | pathogenic | -0.712 | Destabilizing | 1.0 | D | 0.804 | deleterious | None | None | None | None | N |
| G/R | 0.768 | likely_pathogenic | 0.7466 | pathogenic | -0.384 | Destabilizing | 1.0 | D | 0.811 | deleterious | D | 0.572236734 | None | None | N |
| G/S | 0.3992 | ambiguous | 0.3929 | ambiguous | -0.569 | Destabilizing | 1.0 | D | 0.773 | deleterious | None | None | None | None | N |
| G/T | 0.8069 | likely_pathogenic | 0.8013 | pathogenic | -0.649 | Destabilizing | 1.0 | D | 0.832 | deleterious | None | None | None | None | N |
| G/V | 0.8681 | likely_pathogenic | 0.8556 | pathogenic | -0.266 | Destabilizing | 1.0 | D | 0.791 | deleterious | D | 0.585812807 | None | None | N |
| G/W | 0.932 | likely_pathogenic | 0.9246 | pathogenic | -1.089 | Destabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | N |
| G/Y | 0.944 | likely_pathogenic | 0.9365 | pathogenic | -0.735 | Destabilizing | 1.0 | D | 0.755 | 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.