Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31636 | 95131;95132;95133 | chr2:178546425;178546424;178546423 | chr2:179411152;179411151;179411150 |
| N2AB | 29995 | 90208;90209;90210 | chr2:178546425;178546424;178546423 | chr2:179411152;179411151;179411150 |
| N2A | 29068 | 87427;87428;87429 | chr2:178546425;178546424;178546423 | chr2:179411152;179411151;179411150 |
| N2B | 22571 | 67936;67937;67938 | chr2:178546425;178546424;178546423 | chr2:179411152;179411151;179411150 |
| Novex-1 | 22696 | 68311;68312;68313 | chr2:178546425;178546424;178546423 | chr2:179411152;179411151;179411150 |
| Novex-2 | 22763 | 68512;68513;68514 | chr2:178546425;178546424;178546423 | chr2:179411152;179411151;179411150 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/G | rs767187943  |
-0.63 | 0.977 | N | 0.716 | 0.559 | 0.446715556694 | gnomAD-2.1.1 | 8.06E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 1.1162E-04 | None | 0 | None | 0 | 0 | 0 |
| D/G | rs767187943 |
-0.63 | 0.977 | N | 0.716 | 0.559 | 0.446715556694 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 3.85654E-04 | None | 0 | 0 | 0 | 0 | 0 |
| D/G | rs767187943 |
-0.63 | 0.977 | N | 0.716 | 0.559 | 0.446715556694 | gnomAD-4.0.0 | 3.71834E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 1.33755E-04 | None | 0 | 0 | 0 | 0 | 0 |
| D/N | rs776793953 |
-0.019 | 0.993 | N | 0.673 | 0.363 | 0.371344866733 | gnomAD-2.1.1 | 1.65199E-04 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 1.34022E-03 | None | 0 | 0 | 0 |
| D/N | rs776793953 |
-0.019 | 0.993 | N | 0.673 | 0.363 | 0.371344866733 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 6.20861E-04 | 0 |
| D/N | rs776793953 |
-0.019 | 0.993 | N | 0.673 | 0.363 | 0.371344866733 | gnomAD-4.0.0 | 7.49812E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 1.65235E-04 | 8.47639E-07 | 1.25167E-03 | 8.00256E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.4581 | ambiguous | 0.4204 | ambiguous | -0.32 | Destabilizing | 0.993 | D | 0.726 | prob.delet. | N | 0.50573687 | None | None | I |
| D/C | 0.8917 | likely_pathogenic | 0.8786 | pathogenic | -0.035 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | I |
| D/E | 0.3183 | likely_benign | 0.2758 | benign | -0.442 | Destabilizing | 0.117 | N | 0.357 | neutral | N | 0.43046832 | None | None | I |
| D/F | 0.8719 | likely_pathogenic | 0.8485 | pathogenic | -0.125 | Destabilizing | 1.0 | D | 0.822 | deleterious | None | None | None | None | I |
| D/G | 0.5741 | likely_pathogenic | 0.5131 | ambiguous | -0.579 | Destabilizing | 0.977 | D | 0.716 | prob.delet. | N | 0.491492908 | None | None | I |
| D/H | 0.5919 | likely_pathogenic | 0.5743 | pathogenic | -0.16 | Destabilizing | 0.999 | D | 0.805 | deleterious | N | 0.485940388 | None | None | I |
| D/I | 0.7513 | likely_pathogenic | 0.7242 | pathogenic | 0.329 | Stabilizing | 0.998 | D | 0.826 | deleterious | None | None | None | None | I |
| D/K | 0.8328 | likely_pathogenic | 0.8043 | pathogenic | 0.078 | Stabilizing | 0.99 | D | 0.734 | prob.delet. | None | None | None | None | I |
| D/L | 0.7 | likely_pathogenic | 0.6754 | pathogenic | 0.329 | Stabilizing | 0.995 | D | 0.808 | deleterious | None | None | None | None | I |
| D/M | 0.8893 | likely_pathogenic | 0.8796 | pathogenic | 0.532 | Stabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | I |
| D/N | 0.3084 | likely_benign | 0.273 | benign | -0.266 | Destabilizing | 0.993 | D | 0.673 | neutral | N | 0.490767418 | None | None | I |
| D/P | 0.9608 | likely_pathogenic | 0.9447 | pathogenic | 0.137 | Stabilizing | 0.998 | D | 0.809 | deleterious | None | None | None | None | I |
| D/Q | 0.6808 | likely_pathogenic | 0.652 | pathogenic | -0.196 | Destabilizing | 0.99 | D | 0.739 | prob.delet. | None | None | None | None | I |
| D/R | 0.8205 | likely_pathogenic | 0.7995 | pathogenic | 0.268 | Stabilizing | 0.995 | D | 0.793 | deleterious | None | None | None | None | I |
| D/S | 0.332 | likely_benign | 0.2977 | benign | -0.411 | Destabilizing | 0.983 | D | 0.629 | neutral | None | None | None | None | I |
| D/T | 0.5546 | ambiguous | 0.5266 | ambiguous | -0.208 | Destabilizing | 0.995 | D | 0.791 | deleterious | None | None | None | None | I |
| D/V | 0.5116 | ambiguous | 0.4867 | ambiguous | 0.137 | Stabilizing | 0.997 | D | 0.811 | deleterious | N | 0.504526149 | None | None | I |
| D/W | 0.9701 | likely_pathogenic | 0.9687 | pathogenic | 0.025 | Stabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | I |
| D/Y | 0.5467 | ambiguous | 0.5129 | ambiguous | 0.113 | Stabilizing | 1.0 | D | 0.819 | deleterious | N | 0.491746397 | None | None | I |
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.