Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29652 | 89179;89180;89181 | chr2:178554157;178554156;178554155 | chr2:179418884;179418883;179418882 |
| N2AB | 28011 | 84256;84257;84258 | chr2:178554157;178554156;178554155 | chr2:179418884;179418883;179418882 |
| N2A | 27084 | 81475;81476;81477 | chr2:178554157;178554156;178554155 | chr2:179418884;179418883;179418882 |
| N2B | 20587 | 61984;61985;61986 | chr2:178554157;178554156;178554155 | chr2:179418884;179418883;179418882 |
| Novex-1 | 20712 | 62359;62360;62361 | chr2:178554157;178554156;178554155 | chr2:179418884;179418883;179418882 |
| Novex-2 | 20779 | 62560;62561;62562 | chr2:178554157;178554156;178554155 | chr2:179418884;179418883;179418882 |
| 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 | rs748609330  |
-2.709 | 0.999 | N | 0.623 | 0.495 | 0.676012115908 | gnomAD-2.1.1 | 2.17E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 4.76E-05 | 0 |
| V/A | rs748609330 |
-2.709 | 0.999 | N | 0.623 | 0.495 | 0.676012115908 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 4.41E-05 | 0 | 0 |
| V/A | rs748609330 |
-2.709 | 0.999 | N | 0.623 | 0.495 | 0.676012115908 | gnomAD-4.0.0 | 1.05495E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.44161E-05 | 0 | 0 |
| V/I | rs756561910 |
-0.615 | 0.997 | N | 0.518 | 0.23 | 0.584767571859 | gnomAD-2.1.1 | 1.81E-05 | None | None | None | None | N | None | 4.15E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 3.18E-05 | 0 |
| V/I | rs756561910 |
-0.615 | 0.997 | N | 0.518 | 0.23 | 0.584767571859 | gnomAD-3.1.2 | 6.57E-05 | None | None | None | None | N | None | 1.44725E-04 | 0 | 0 | 0 | 0 | None | 0 | 0 | 5.88E-05 | 0 | 0 |
| V/I | rs756561910 |
-0.615 | 0.997 | N | 0.518 | 0.23 | 0.584767571859 | gnomAD-4.0.0 | 1.92699E-05 | None | None | None | None | N | None | 1.35768E-04 | 0 | None | 0 | 0 | None | 0 | 0 | 1.6773E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.642 | likely_pathogenic | 0.6744 | pathogenic | -2.265 | Highly Destabilizing | 0.999 | D | 0.623 | neutral | N | 0.50060599 | None | None | N |
| V/C | 0.9471 | likely_pathogenic | 0.955 | pathogenic | -1.889 | Destabilizing | 1.0 | D | 0.744 | deleterious | None | None | None | None | N |
| V/D | 0.9987 | likely_pathogenic | 0.9989 | pathogenic | -3.47 | Highly Destabilizing | 1.0 | D | 0.869 | deleterious | D | 0.528117994 | None | None | N |
| V/E | 0.995 | likely_pathogenic | 0.9958 | pathogenic | -3.161 | Highly Destabilizing | 1.0 | D | 0.828 | deleterious | None | None | None | None | N |
| V/F | 0.8961 | likely_pathogenic | 0.9138 | pathogenic | -1.323 | Destabilizing | 1.0 | D | 0.709 | prob.delet. | N | 0.499845521 | None | None | N |
| V/G | 0.9374 | likely_pathogenic | 0.9438 | pathogenic | -2.875 | Highly Destabilizing | 1.0 | D | 0.85 | deleterious | N | 0.516761688 | None | None | N |
| V/H | 0.9985 | likely_pathogenic | 0.9987 | pathogenic | -2.897 | Highly Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| V/I | 0.0869 | likely_benign | 0.0881 | benign | -0.502 | Destabilizing | 0.997 | D | 0.518 | neutral | N | 0.459566571 | None | None | N |
| V/K | 0.9966 | likely_pathogenic | 0.997 | pathogenic | -2.065 | Highly Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| V/L | 0.3157 | likely_benign | 0.3566 | ambiguous | -0.502 | Destabilizing | 0.997 | D | 0.63 | neutral | N | 0.400085832 | None | None | N |
| V/M | 0.4826 | ambiguous | 0.5578 | ambiguous | -0.719 | Destabilizing | 1.0 | D | 0.692 | prob.neutral | None | None | None | None | N |
| V/N | 0.9942 | likely_pathogenic | 0.9947 | pathogenic | -2.717 | Highly Destabilizing | 1.0 | D | 0.89 | deleterious | None | None | None | None | N |
| V/P | 0.9943 | likely_pathogenic | 0.9946 | pathogenic | -1.069 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| V/Q | 0.9941 | likely_pathogenic | 0.995 | pathogenic | -2.38 | Highly Destabilizing | 1.0 | D | 0.874 | deleterious | None | None | None | None | N |
| V/R | 0.9934 | likely_pathogenic | 0.9941 | pathogenic | -2.113 | Highly Destabilizing | 1.0 | D | 0.894 | deleterious | None | None | None | None | N |
| V/S | 0.963 | likely_pathogenic | 0.9659 | pathogenic | -3.226 | Highly Destabilizing | 1.0 | D | 0.818 | deleterious | None | None | None | None | N |
| V/T | 0.8329 | likely_pathogenic | 0.8399 | pathogenic | -2.758 | Highly Destabilizing | 0.999 | D | 0.605 | neutral | None | None | None | None | N |
| V/W | 0.9988 | likely_pathogenic | 0.9992 | pathogenic | -2.004 | Highly Destabilizing | 1.0 | D | 0.858 | deleterious | None | None | None | None | N |
| V/Y | 0.9946 | likely_pathogenic | 0.9954 | pathogenic | -1.609 | Destabilizing | 1.0 | D | 0.723 | 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.