Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28289 | 85090;85091;85092 | chr2:178561267;178561266;178561265 | chr2:179425994;179425993;179425992 |
| N2AB | 26648 | 80167;80168;80169 | chr2:178561267;178561266;178561265 | chr2:179425994;179425993;179425992 |
| N2A | 25721 | 77386;77387;77388 | chr2:178561267;178561266;178561265 | chr2:179425994;179425993;179425992 |
| N2B | 19224 | 57895;57896;57897 | chr2:178561267;178561266;178561265 | chr2:179425994;179425993;179425992 |
| Novex-1 | 19349 | 58270;58271;58272 | chr2:178561267;178561266;178561265 | chr2:179425994;179425993;179425992 |
| Novex-2 | 19416 | 58471;58472;58473 | chr2:178561267;178561266;178561265 | chr2:179425994;179425993;179425992 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | rs534008710  |
-2.362 | 0.104 | D | 0.597 | 0.551 | 0.587148908892 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 6.46E-05 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 8.88E-06 | 0 |
| V/A | rs534008710 |
-2.362 | 0.104 | D | 0.597 | 0.551 | 0.587148908892 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 8E-04 | 0 | None | None | 0 | 0 | None | None | None | 0 | None |
| V/A | rs534008710 |
-2.362 | 0.104 | D | 0.597 | 0.551 | 0.587148908892 | gnomAD-4.0.0 | 4.78954E-06 | None | None | None | None | N | None | 2.98793E-05 | 2.23614E-05 | None | 0 | 0 | None | 0 | 0 | 3.59778E-06 | 1.15934E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.7205 | likely_pathogenic | 0.7596 | pathogenic | -2.367 | Highly Destabilizing | 0.104 | N | 0.597 | neutral | D | 0.564025287 | None | None | N |
| V/C | 0.9447 | likely_pathogenic | 0.9666 | pathogenic | -1.499 | Destabilizing | 0.968 | D | 0.719 | prob.delet. | None | None | None | None | N |
| V/D | 0.9972 | likely_pathogenic | 0.9981 | pathogenic | -3.287 | Highly Destabilizing | 0.667 | D | 0.865 | deleterious | D | 0.564785755 | None | None | N |
| V/E | 0.9892 | likely_pathogenic | 0.9918 | pathogenic | -2.96 | Highly Destabilizing | 0.726 | D | 0.826 | deleterious | None | None | None | None | N |
| V/F | 0.818 | likely_pathogenic | 0.8791 | pathogenic | -1.368 | Destabilizing | 0.497 | N | 0.728 | prob.delet. | D | 0.55317596 | None | None | N |
| V/G | 0.9437 | likely_pathogenic | 0.9563 | pathogenic | -2.954 | Highly Destabilizing | 0.667 | D | 0.848 | deleterious | D | 0.564785755 | None | None | N |
| V/H | 0.9964 | likely_pathogenic | 0.9978 | pathogenic | -2.875 | Highly Destabilizing | 0.968 | D | 0.845 | deleterious | None | None | None | None | N |
| V/I | 0.0678 | likely_benign | 0.0693 | benign | -0.632 | Destabilizing | None | N | 0.217 | neutral | N | 0.461265656 | None | None | N |
| V/K | 0.9897 | likely_pathogenic | 0.9921 | pathogenic | -1.869 | Destabilizing | 0.726 | D | 0.826 | deleterious | None | None | None | None | N |
| V/L | 0.3182 | likely_benign | 0.3281 | benign | -0.632 | Destabilizing | 0.009 | N | 0.375 | neutral | N | 0.479661941 | None | None | N |
| V/M | 0.5061 | ambiguous | 0.5962 | pathogenic | -0.859 | Destabilizing | 0.567 | D | 0.615 | neutral | None | None | None | None | N |
| V/N | 0.9899 | likely_pathogenic | 0.993 | pathogenic | -2.634 | Highly Destabilizing | 0.89 | D | 0.87 | deleterious | None | None | None | None | N |
| V/P | 0.9674 | likely_pathogenic | 0.9775 | pathogenic | -1.197 | Destabilizing | 0.89 | D | 0.835 | deleterious | None | None | None | None | N |
| V/Q | 0.9875 | likely_pathogenic | 0.9908 | pathogenic | -2.228 | Highly Destabilizing | 0.89 | D | 0.853 | deleterious | None | None | None | None | N |
| V/R | 0.9811 | likely_pathogenic | 0.9847 | pathogenic | -2.079 | Highly Destabilizing | 0.726 | D | 0.871 | deleterious | None | None | None | None | N |
| V/S | 0.9475 | likely_pathogenic | 0.9628 | pathogenic | -3.037 | Highly Destabilizing | 0.726 | D | 0.774 | deleterious | None | None | None | None | N |
| V/T | 0.7568 | likely_pathogenic | 0.8157 | pathogenic | -2.555 | Highly Destabilizing | 0.272 | N | 0.594 | neutral | None | None | None | None | N |
| V/W | 0.9953 | likely_pathogenic | 0.9978 | pathogenic | -1.86 | Destabilizing | 0.968 | D | 0.812 | deleterious | None | None | None | None | N |
| V/Y | 0.9858 | likely_pathogenic | 0.9921 | pathogenic | -1.61 | Destabilizing | 0.726 | D | 0.717 | prob.delet. | 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.