Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30334 | 91225;91226;91227 | chr2:178551900;178551899;178551898 | chr2:179416627;179416626;179416625 |
| N2AB | 28693 | 86302;86303;86304 | chr2:178551900;178551899;178551898 | chr2:179416627;179416626;179416625 |
| N2A | 27766 | 83521;83522;83523 | chr2:178551900;178551899;178551898 | chr2:179416627;179416626;179416625 |
| N2B | 21269 | 64030;64031;64032 | chr2:178551900;178551899;178551898 | chr2:179416627;179416626;179416625 |
| Novex-1 | 21394 | 64405;64406;64407 | chr2:178551900;178551899;178551898 | chr2:179416627;179416626;179416625 |
| Novex-2 | 21461 | 64606;64607;64608 | chr2:178551900;178551899;178551898 | chr2:179416627;179416626;179416625 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/C | None | None | 1.0 | N | 0.693 | 0.323 | 0.482357354261 | gnomAD-4.0.0 | 1.59118E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85824E-06 | 0 | 0 |
| Y/D | None | None | 1.0 | N | 0.709 | 0.506 | 0.676647753298 | gnomAD-4.0.0 | 1.36839E-06 | None | None | None | None | I | None | 5.9755E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| Y/H | None | None | 1.0 | N | 0.697 | 0.42 | 0.399304321381 | gnomAD-4.0.0 | 6.84195E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99468E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/A | 0.5455 | ambiguous | 0.4805 | ambiguous | -1.769 | Destabilizing | 0.997 | D | 0.557 | neutral | None | None | None | None | I |
| Y/C | 0.1197 | likely_benign | 0.1253 | benign | -0.31 | Destabilizing | 1.0 | D | 0.693 | prob.neutral | N | 0.423896559 | None | None | I |
| Y/D | 0.5688 | likely_pathogenic | 0.5216 | ambiguous | -0.073 | Destabilizing | 1.0 | D | 0.709 | prob.delet. | N | 0.435073558 | None | None | I |
| Y/E | 0.7653 | likely_pathogenic | 0.7164 | pathogenic | -0.055 | Destabilizing | 1.0 | D | 0.666 | neutral | None | None | None | None | I |
| Y/F | 0.0912 | likely_benign | 0.0839 | benign | -0.948 | Destabilizing | 0.275 | N | 0.281 | neutral | N | 0.453526033 | None | None | I |
| Y/G | 0.4818 | ambiguous | 0.427 | ambiguous | -2.028 | Highly Destabilizing | 1.0 | D | 0.681 | prob.neutral | None | None | None | None | I |
| Y/H | 0.2058 | likely_benign | 0.1805 | benign | -0.566 | Destabilizing | 1.0 | D | 0.697 | prob.neutral | N | 0.459201212 | None | None | I |
| Y/I | 0.4713 | ambiguous | 0.4057 | ambiguous | -1.034 | Destabilizing | 0.998 | D | 0.615 | neutral | None | None | None | None | I |
| Y/K | 0.6821 | likely_pathogenic | 0.6082 | pathogenic | -0.52 | Destabilizing | 1.0 | D | 0.667 | neutral | None | None | None | None | I |
| Y/L | 0.4822 | ambiguous | 0.4299 | ambiguous | -1.034 | Destabilizing | 0.988 | D | 0.592 | neutral | None | None | None | None | I |
| Y/M | 0.6174 | likely_pathogenic | 0.5516 | ambiguous | -0.548 | Destabilizing | 1.0 | D | 0.668 | neutral | None | None | None | None | I |
| Y/N | 0.2679 | likely_benign | 0.2346 | benign | -0.654 | Destabilizing | 1.0 | D | 0.686 | prob.neutral | N | 0.459027853 | None | None | I |
| Y/P | 0.9591 | likely_pathogenic | 0.9441 | pathogenic | -1.266 | Destabilizing | 1.0 | D | 0.703 | prob.neutral | None | None | None | None | I |
| Y/Q | 0.5157 | ambiguous | 0.4561 | ambiguous | -0.689 | Destabilizing | 1.0 | D | 0.705 | prob.neutral | None | None | None | None | I |
| Y/R | 0.4754 | ambiguous | 0.4168 | ambiguous | -0.007 | Destabilizing | 1.0 | D | 0.686 | prob.neutral | None | None | None | None | I |
| Y/S | 0.2266 | likely_benign | 0.1943 | benign | -1.178 | Destabilizing | 1.0 | D | 0.656 | neutral | N | 0.391279922 | None | None | I |
| Y/T | 0.3682 | ambiguous | 0.2974 | benign | -1.071 | Destabilizing | 1.0 | D | 0.668 | neutral | None | None | None | None | I |
| Y/V | 0.37 | ambiguous | 0.3142 | benign | -1.266 | Destabilizing | 0.994 | D | 0.619 | neutral | None | None | None | None | I |
| Y/W | 0.4286 | ambiguous | 0.3959 | ambiguous | -0.753 | Destabilizing | 1.0 | D | 0.673 | neutral | 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.