Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32970 | 99133;99134;99135 | chr2:178539027;178539026;178539025 | chr2:179403754;179403753;179403752 |
| N2AB | 31329 | 94210;94211;94212 | chr2:178539027;178539026;178539025 | chr2:179403754;179403753;179403752 |
| N2A | 30402 | 91429;91430;91431 | chr2:178539027;178539026;178539025 | chr2:179403754;179403753;179403752 |
| N2B | 23905 | 71938;71939;71940 | chr2:178539027;178539026;178539025 | chr2:179403754;179403753;179403752 |
| Novex-1 | 24030 | 72313;72314;72315 | chr2:178539027;178539026;178539025 | chr2:179403754;179403753;179403752 |
| Novex-2 | 24097 | 72514;72515;72516 | chr2:178539027;178539026;178539025 | chr2:179403754;179403753;179403752 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/L | rs574423649  |
-1.264 | 0.999 | N | 0.668 | 0.513 | 0.625503179482 | gnomAD-2.1.1 | 2.01E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.63399E-04 | None | 0 | 0 | 0 |
| F/L | rs574423649 |
-1.264 | 0.999 | N | 0.668 | 0.513 | 0.625503179482 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.07039E-04 | 0 |
| F/L | rs574423649 |
-1.264 | 0.999 | N | 0.668 | 0.513 | 0.625503179482 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 0 | 0 | None | None | None | 1E-03 | None |
| F/L | rs574423649 |
-1.264 | 0.999 | N | 0.668 | 0.513 | 0.625503179482 | gnomAD-4.0.0 | 5.57701E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 9.88099E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/A | 0.9996 | likely_pathogenic | 0.9995 | pathogenic | -2.891 | Highly Destabilizing | 1.0 | D | 0.731 | prob.delet. | None | None | None | None | N |
| F/C | 0.995 | likely_pathogenic | 0.9936 | pathogenic | -1.827 | Destabilizing | 1.0 | D | 0.825 | deleterious | D | 0.551416944 | None | None | N |
| F/D | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -3.853 | Highly Destabilizing | 1.0 | D | 0.828 | deleterious | None | None | None | None | N |
| F/E | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -3.605 | Highly Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| F/G | 0.9995 | likely_pathogenic | 0.9994 | pathogenic | -3.36 | Highly Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| F/H | 0.9986 | likely_pathogenic | 0.9982 | pathogenic | -2.364 | Highly Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | N |
| F/I | 0.9844 | likely_pathogenic | 0.98 | pathogenic | -1.327 | Destabilizing | 1.0 | D | 0.789 | deleterious | N | 0.49037532 | None | None | N |
| F/K | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -2.548 | Highly Destabilizing | 1.0 | D | 0.83 | deleterious | None | None | None | None | N |
| F/L | 0.9979 | likely_pathogenic | 0.9976 | pathogenic | -1.327 | Destabilizing | 0.999 | D | 0.668 | neutral | N | 0.502505321 | None | None | N |
| F/M | 0.9923 | likely_pathogenic | 0.9908 | pathogenic | -1.022 | Destabilizing | 1.0 | D | 0.822 | deleterious | None | None | None | None | N |
| F/N | 0.9997 | likely_pathogenic | 0.9995 | pathogenic | -3.281 | Highly Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | N |
| F/P | 1.0 | likely_pathogenic | 1.0 | pathogenic | -1.866 | Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | N |
| F/Q | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -3.076 | Highly Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | N |
| F/R | 0.9997 | likely_pathogenic | 0.9996 | pathogenic | -2.327 | Highly Destabilizing | 1.0 | D | 0.88 | deleterious | None | None | None | None | N |
| F/S | 0.9996 | likely_pathogenic | 0.9995 | pathogenic | -3.72 | Highly Destabilizing | 1.0 | D | 0.8 | deleterious | D | 0.551416944 | None | None | N |
| F/T | 0.9997 | likely_pathogenic | 0.9996 | pathogenic | -3.344 | Highly Destabilizing | 1.0 | D | 0.8 | deleterious | None | None | None | None | N |
| F/V | 0.9872 | likely_pathogenic | 0.9842 | pathogenic | -1.866 | Destabilizing | 1.0 | D | 0.71 | prob.delet. | N | 0.492004254 | None | None | N |
| F/W | 0.9571 | likely_pathogenic | 0.9524 | pathogenic | -0.666 | Destabilizing | 1.0 | D | 0.798 | deleterious | None | None | None | None | N |
| F/Y | 0.7654 | likely_pathogenic | 0.7312 | pathogenic | -1.109 | Destabilizing | 0.999 | D | 0.598 | neutral | N | 0.498470077 | 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.