Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 21961 | 66106;66107;66108 | chr2:178582575;178582574;178582573 | chr2:179447302;179447301;179447300 |
| N2AB | 20320 | 61183;61184;61185 | chr2:178582575;178582574;178582573 | chr2:179447302;179447301;179447300 |
| N2A | 19393 | 58402;58403;58404 | chr2:178582575;178582574;178582573 | chr2:179447302;179447301;179447300 |
| N2B | 12896 | 38911;38912;38913 | chr2:178582575;178582574;178582573 | chr2:179447302;179447301;179447300 |
| Novex-1 | 13021 | 39286;39287;39288 | chr2:178582575;178582574;178582573 | chr2:179447302;179447301;179447300 |
| Novex-2 | 13088 | 39487;39488;39489 | chr2:178582575;178582574;178582573 | chr2:179447302;179447301;179447300 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/T | rs778340197  |
-1.07 | 0.892 | N | 0.593 | 0.176 | 0.224531998449 | gnomAD-2.1.1 | 4.09E-06 | None | None | None | None | N | None | 0 | 2.92E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| A/T | rs778340197 |
-1.07 | 0.892 | N | 0.593 | 0.176 | 0.224531998449 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 6.56E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/T | rs778340197 |
-1.07 | 0.892 | N | 0.593 | 0.176 | 0.224531998449 | gnomAD-4.0.0 | 6.57756E-06 | None | None | None | None | N | None | 0 | 6.55566E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.5401 | ambiguous | 0.5058 | ambiguous | -0.827 | Destabilizing | 0.999 | D | 0.639 | neutral | None | None | None | None | N |
| A/D | 0.6468 | likely_pathogenic | 0.5632 | ambiguous | -1.825 | Destabilizing | 0.987 | D | 0.735 | prob.delet. | None | None | None | None | N |
| A/E | 0.4309 | ambiguous | 0.3695 | ambiguous | -1.793 | Destabilizing | 0.892 | D | 0.64 | neutral | N | 0.432494613 | None | None | N |
| A/F | 0.4546 | ambiguous | 0.4041 | ambiguous | -0.991 | Destabilizing | 0.996 | D | 0.754 | deleterious | None | None | None | None | N |
| A/G | 0.2014 | likely_benign | 0.1733 | benign | -1.358 | Destabilizing | 0.892 | D | 0.513 | neutral | N | 0.380297711 | None | None | N |
| A/H | 0.6367 | likely_pathogenic | 0.5759 | pathogenic | -1.752 | Destabilizing | 0.997 | D | 0.733 | prob.delet. | None | None | None | None | N |
| A/I | 0.2265 | likely_benign | 0.2192 | benign | -0.26 | Destabilizing | 0.987 | D | 0.709 | prob.delet. | None | None | None | None | N |
| A/K | 0.5037 | ambiguous | 0.426 | ambiguous | -1.466 | Destabilizing | 0.253 | N | 0.362 | neutral | None | None | None | None | N |
| A/L | 0.1946 | likely_benign | 0.1785 | benign | -0.26 | Destabilizing | 0.916 | D | 0.629 | neutral | None | None | None | None | N |
| A/M | 0.271 | likely_benign | 0.2551 | benign | -0.114 | Destabilizing | 0.999 | D | 0.687 | prob.neutral | None | None | None | None | N |
| A/N | 0.4425 | ambiguous | 0.3849 | ambiguous | -1.251 | Destabilizing | 0.975 | D | 0.74 | deleterious | None | None | None | None | N |
| A/P | 0.7956 | likely_pathogenic | 0.6703 | pathogenic | -0.475 | Destabilizing | 0.994 | D | 0.71 | prob.delet. | N | 0.513401056 | None | None | N |
| A/Q | 0.3842 | ambiguous | 0.3481 | ambiguous | -1.324 | Destabilizing | 0.975 | D | 0.711 | prob.delet. | None | None | None | None | N |
| A/R | 0.4132 | ambiguous | 0.3532 | ambiguous | -1.179 | Destabilizing | 0.073 | N | 0.331 | neutral | None | None | None | None | N |
| A/S | 0.1249 | likely_benign | 0.1159 | benign | -1.556 | Destabilizing | 0.892 | D | 0.499 | neutral | N | 0.434014766 | None | None | N |
| A/T | 0.1134 | likely_benign | 0.1098 | benign | -1.433 | Destabilizing | 0.892 | D | 0.593 | neutral | N | 0.469300775 | None | None | N |
| A/V | 0.1237 | likely_benign | 0.1214 | benign | -0.475 | Destabilizing | 0.944 | D | 0.594 | neutral | N | 0.485830453 | None | None | N |
| A/W | 0.8835 | likely_pathogenic | 0.8486 | pathogenic | -1.534 | Destabilizing | 0.999 | D | 0.729 | prob.delet. | None | None | None | None | N |
| A/Y | 0.6075 | likely_pathogenic | 0.554 | ambiguous | -1.085 | Destabilizing | 0.996 | D | 0.755 | deleterious | 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.