Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 35463 | 106612;106613;106614 | chr2:178530104;178530103;178530102 | chr2:179394831;179394830;179394829 |
| N2AB | 33822 | 101689;101690;101691 | chr2:178530104;178530103;178530102 | chr2:179394831;179394830;179394829 |
| N2A | 32895 | 98908;98909;98910 | chr2:178530104;178530103;178530102 | chr2:179394831;179394830;179394829 |
| N2B | 26398 | 79417;79418;79419 | chr2:178530104;178530103;178530102 | chr2:179394831;179394830;179394829 |
| Novex-1 | 26523 | 79792;79793;79794 | chr2:178530104;178530103;178530102 | chr2:179394831;179394830;179394829 |
| Novex-2 | 26590 | 79993;79994;79995 | chr2:178530104;178530103;178530102 | chr2:179394831;179394830;179394829 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | rs373369136  |
0.102 | 0.262 | N | 0.447 | 0.09 | None | gnomAD-2.1.1 | 1.89E-05 | None | None | None | None | N | None | 8.37E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 2.41E-05 | 0 |
| G/A | rs373369136 |
0.102 | 0.262 | N | 0.447 | 0.09 | None | gnomAD-3.1.2 | 4.6E-05 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 8.82E-05 | 0 | 0 |
| G/A | rs373369136 |
0.102 | 0.262 | N | 0.447 | 0.09 | None | gnomAD-4.0.0 | 6.55598E-05 | None | None | None | None | N | None | 2.69957E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 8.58147E-05 | 0 | 3.22601E-05 |
| G/R | rs1474079403 |
None | 0.713 | N | 0.65 | 0.219 | 0.402471007487 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| G/R | rs1474079403 |
None | 0.713 | N | 0.65 | 0.219 | 0.402471007487 | gnomAD-4.0.0 | 1.06155E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.35957E-05 | 0 | 1.61296E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.1119 | likely_benign | 0.1238 | benign | -0.227 | Destabilizing | 0.262 | N | 0.447 | neutral | N | 0.508562879 | None | None | N |
| G/C | 0.2869 | likely_benign | 0.2772 | benign | -0.934 | Destabilizing | 0.987 | D | 0.725 | prob.delet. | None | None | None | None | N |
| G/D | 0.1214 | likely_benign | 0.1268 | benign | -0.281 | Destabilizing | 0.003 | N | 0.341 | neutral | None | None | None | None | N |
| G/E | 0.1474 | likely_benign | 0.1565 | benign | -0.424 | Destabilizing | 0.262 | N | 0.529 | neutral | N | 0.468447052 | None | None | N |
| G/F | 0.5089 | ambiguous | 0.5427 | ambiguous | -0.845 | Destabilizing | 0.962 | D | 0.721 | prob.delet. | None | None | None | None | N |
| G/H | 0.3573 | ambiguous | 0.3706 | ambiguous | -0.399 | Destabilizing | 0.987 | D | 0.659 | neutral | None | None | None | None | N |
| G/I | 0.2746 | likely_benign | 0.2891 | benign | -0.334 | Destabilizing | 0.87 | D | 0.723 | prob.delet. | None | None | None | None | N |
| G/K | 0.3527 | ambiguous | 0.3653 | ambiguous | -0.738 | Destabilizing | 0.767 | D | 0.602 | neutral | None | None | None | None | N |
| G/L | 0.3631 | ambiguous | 0.3945 | ambiguous | -0.334 | Destabilizing | 0.767 | D | 0.705 | prob.neutral | None | None | None | None | N |
| G/M | 0.4364 | ambiguous | 0.4692 | ambiguous | -0.541 | Destabilizing | 0.987 | D | 0.72 | prob.delet. | None | None | None | None | N |
| G/N | 0.1928 | likely_benign | 0.2047 | benign | -0.464 | Destabilizing | 0.622 | D | 0.607 | neutral | None | None | None | None | N |
| G/P | 0.7601 | likely_pathogenic | 0.7644 | pathogenic | -0.265 | Destabilizing | 0.87 | D | 0.637 | neutral | None | None | None | None | N |
| G/Q | 0.3008 | likely_benign | 0.3103 | benign | -0.678 | Destabilizing | 0.767 | D | 0.651 | neutral | None | None | None | None | N |
| G/R | 0.2732 | likely_benign | 0.2812 | benign | -0.36 | Destabilizing | 0.713 | D | 0.65 | neutral | N | 0.500559471 | None | None | N |
| G/S | 0.0869 | likely_benign | 0.0944 | benign | -0.654 | Destabilizing | 0.028 | N | 0.309 | neutral | None | None | None | None | N |
| G/T | 0.1376 | likely_benign | 0.1504 | benign | -0.714 | Destabilizing | 0.622 | D | 0.576 | neutral | None | None | None | None | N |
| G/V | 0.185 | likely_benign | 0.1969 | benign | -0.265 | Destabilizing | 0.713 | D | 0.705 | prob.neutral | N | 0.471673683 | None | None | N |
| G/W | 0.4091 | ambiguous | 0.4219 | ambiguous | -1.015 | Destabilizing | 0.987 | D | 0.677 | prob.neutral | None | None | None | None | N |
| G/Y | 0.3661 | ambiguous | 0.3957 | ambiguous | -0.663 | Destabilizing | 0.987 | D | 0.725 | 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.