Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 9364 | 28315;28316;28317 | chr2:178711146;178711145;178711144 | chr2:179575873;179575872;179575871 |
| N2AB | 9047 | 27364;27365;27366 | chr2:178711146;178711145;178711144 | chr2:179575873;179575872;179575871 |
| N2A | 8120 | 24583;24584;24585 | chr2:178711146;178711145;178711144 | chr2:179575873;179575872;179575871 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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/E | rs771195179  |
-0.276 | 0.014 | None | 0.148 | 0.145 | 0.0666544352282 | gnomAD-2.1.1 | 9.55E-05 | None | None | None | None | I | None | 2.29516E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 9.2081E-04 |
| D/E | rs771195179 |
-0.276 | 0.014 | None | 0.148 | 0.145 | 0.0666544352282 | gnomAD-3.1.2 | 3.29E-05 | None | None | None | None | I | None | 7.24E-05 | 1.30959E-04 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| D/E | rs771195179 |
-0.276 | 0.014 | None | 0.148 | 0.145 | 0.0666544352282 | gnomAD-4.0.0 | 6.84195E-07 | None | None | None | None | I | None | 0 | 2.23604E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| D/H | None | None | 0.901 | None | 0.555 | 0.335 | 0.33340067248 | gnomAD-4.0.0 | 3.18241E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43299E-05 | 3.02389E-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 | 0.2436 | likely_benign | 0.3256 | benign | -0.294 | Destabilizing | 0.722 | D | 0.508 | neutral | None | None | None | None | I |
| D/C | 0.7432 | likely_pathogenic | 0.8203 | pathogenic | -0.055 | Destabilizing | 0.996 | D | 0.781 | deleterious | None | None | None | None | I |
| D/E | 0.1766 | likely_benign | 0.2052 | benign | -0.275 | Destabilizing | 0.014 | N | 0.148 | neutral | None | None | None | None | I |
| D/F | 0.7082 | likely_pathogenic | 0.7576 | pathogenic | 0.075 | Stabilizing | 0.987 | D | 0.718 | prob.delet. | None | None | None | None | I |
| D/G | 0.2383 | likely_benign | 0.3152 | benign | -0.563 | Destabilizing | 0.565 | D | 0.451 | neutral | None | None | None | None | I |
| D/H | 0.3149 | likely_benign | 0.4005 | ambiguous | 0.148 | Stabilizing | 0.901 | D | 0.555 | neutral | None | None | None | None | I |
| D/I | 0.4967 | ambiguous | 0.5726 | pathogenic | 0.388 | Stabilizing | 0.961 | D | 0.708 | prob.delet. | None | None | None | None | I |
| D/K | 0.4015 | ambiguous | 0.5042 | ambiguous | 0.232 | Stabilizing | 0.633 | D | 0.438 | neutral | None | None | None | None | I |
| D/L | 0.4805 | ambiguous | 0.5788 | pathogenic | 0.388 | Stabilizing | 0.923 | D | 0.674 | neutral | None | None | None | None | I |
| D/M | 0.7185 | likely_pathogenic | 0.7636 | pathogenic | 0.52 | Stabilizing | 0.996 | D | 0.718 | prob.delet. | None | None | None | None | I |
| D/N | 0.1148 | likely_benign | 0.1299 | benign | -0.278 | Destabilizing | 0.008 | N | 0.284 | neutral | None | None | None | None | I |
| D/P | 0.8133 | likely_pathogenic | 0.9134 | pathogenic | 0.185 | Stabilizing | 0.961 | D | 0.532 | neutral | None | None | None | None | I |
| D/Q | 0.333 | likely_benign | 0.4129 | ambiguous | -0.169 | Destabilizing | 0.923 | D | 0.459 | neutral | None | None | None | None | I |
| D/R | 0.4374 | ambiguous | 0.5475 | ambiguous | 0.459 | Stabilizing | 0.923 | D | 0.591 | neutral | None | None | None | None | I |
| D/S | 0.136 | likely_benign | 0.1693 | benign | -0.402 | Destabilizing | 0.633 | D | 0.41 | neutral | None | None | None | None | I |
| D/T | 0.2847 | likely_benign | 0.3452 | ambiguous | -0.177 | Destabilizing | 0.775 | D | 0.475 | neutral | None | None | None | None | I |
| D/V | 0.3183 | likely_benign | 0.393 | ambiguous | 0.185 | Stabilizing | 0.949 | D | 0.663 | neutral | None | None | None | None | I |
| D/W | 0.9087 | likely_pathogenic | 0.9427 | pathogenic | 0.28 | Stabilizing | 0.996 | D | 0.774 | deleterious | None | None | None | None | I |
| D/Y | 0.3277 | likely_benign | 0.4137 | ambiguous | 0.334 | Stabilizing | 0.983 | D | 0.721 | prob.delet. | None | None | 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.