Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20480 | 61663;61664;61665 | chr2:178590287;178590286;178590285 | chr2:179455014;179455013;179455012 |
| N2AB | 18839 | 56740;56741;56742 | chr2:178590287;178590286;178590285 | chr2:179455014;179455013;179455012 |
| N2A | 17912 | 53959;53960;53961 | chr2:178590287;178590286;178590285 | chr2:179455014;179455013;179455012 |
| N2B | 11415 | 34468;34469;34470 | chr2:178590287;178590286;178590285 | chr2:179455014;179455013;179455012 |
| Novex-1 | 11540 | 34843;34844;34845 | chr2:178590287;178590286;178590285 | chr2:179455014;179455013;179455012 |
| Novex-2 | 11607 | 35044;35045;35046 | chr2:178590287;178590286;178590285 | chr2:179455014;179455013;179455012 |
| 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/F | rs1043320696  |
None | 0.976 | N | 0.574 | 0.303 | 0.564466916518 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/F | rs1043320696 |
None | 0.976 | N | 0.574 | 0.303 | 0.564466916518 | gnomAD-4.0.0 | 1.91008E-06 | None | None | None | None | N | None | 2.71673E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 1.65131E-05 |
| V/I | None | None | 0.704 | N | 0.537 | 0.159 | 0.242825505644 | gnomAD-4.0.0 | 1.40984E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.8331E-06 | 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 | 0.3669 | ambiguous | 0.3895 | ambiguous | -0.276 | Destabilizing | 0.061 | N | 0.201 | neutral | N | 0.389946196 | None | None | N |
| V/C | 0.8593 | likely_pathogenic | 0.8787 | pathogenic | -0.639 | Destabilizing | 0.999 | D | 0.571 | neutral | None | None | None | None | N |
| V/D | 0.7776 | likely_pathogenic | 0.7686 | pathogenic | -0.336 | Destabilizing | 0.988 | D | 0.602 | neutral | N | 0.474583591 | None | None | N |
| V/E | 0.7149 | likely_pathogenic | 0.7011 | pathogenic | -0.467 | Destabilizing | 0.991 | D | 0.558 | neutral | None | None | None | None | N |
| V/F | 0.4058 | ambiguous | 0.4221 | ambiguous | -0.703 | Destabilizing | 0.976 | D | 0.574 | neutral | N | 0.492745277 | None | None | N |
| V/G | 0.4861 | ambiguous | 0.4977 | ambiguous | -0.339 | Destabilizing | 0.852 | D | 0.539 | neutral | N | 0.49343871 | None | None | N |
| V/H | 0.8739 | likely_pathogenic | 0.8827 | pathogenic | 0.037 | Stabilizing | 0.999 | D | 0.609 | neutral | None | None | None | None | N |
| V/I | 0.0966 | likely_benign | 0.0992 | benign | -0.262 | Destabilizing | 0.704 | D | 0.537 | neutral | N | 0.454264247 | None | None | N |
| V/K | 0.821 | likely_pathogenic | 0.7961 | pathogenic | -0.286 | Destabilizing | 0.982 | D | 0.555 | neutral | None | None | None | None | N |
| V/L | 0.3999 | ambiguous | 0.4097 | ambiguous | -0.262 | Destabilizing | 0.015 | N | 0.209 | neutral | N | 0.43623306 | None | None | N |
| V/M | 0.3084 | likely_benign | 0.3147 | benign | -0.387 | Destabilizing | 0.982 | D | 0.624 | neutral | None | None | None | None | N |
| V/N | 0.619 | likely_pathogenic | 0.6456 | pathogenic | -0.044 | Destabilizing | 0.997 | D | 0.626 | neutral | None | None | None | None | N |
| V/P | 0.6387 | likely_pathogenic | 0.6868 | pathogenic | -0.237 | Destabilizing | 0.991 | D | 0.583 | neutral | None | None | None | None | N |
| V/Q | 0.7184 | likely_pathogenic | 0.7142 | pathogenic | -0.299 | Destabilizing | 0.997 | D | 0.609 | neutral | None | None | None | None | N |
| V/R | 0.779 | likely_pathogenic | 0.7528 | pathogenic | 0.208 | Stabilizing | 0.991 | D | 0.609 | neutral | None | None | None | None | N |
| V/S | 0.4653 | ambiguous | 0.5052 | ambiguous | -0.344 | Destabilizing | 0.884 | D | 0.517 | neutral | None | None | None | None | N |
| V/T | 0.4293 | ambiguous | 0.4624 | ambiguous | -0.384 | Destabilizing | 0.939 | D | 0.543 | neutral | None | None | None | None | N |
| V/W | 0.9499 | likely_pathogenic | 0.9535 | pathogenic | -0.765 | Destabilizing | 0.999 | D | 0.651 | neutral | None | None | None | None | N |
| V/Y | 0.8063 | likely_pathogenic | 0.8234 | pathogenic | -0.465 | Destabilizing | 0.997 | D | 0.595 | neutral | 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.