Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 35944 | 108055;108056;108057 | chr2:178527158;178527157;178527156 | chr2:179391885;179391884;179391883 |
| N2AB | 34303 | 103132;103133;103134 | chr2:178527158;178527157;178527156 | chr2:179391885;179391884;179391883 |
| N2A | 33376 | 100351;100352;100353 | chr2:178527158;178527157;178527156 | chr2:179391885;179391884;179391883 |
| N2B | 26879 | 80860;80861;80862 | chr2:178527158;178527157;178527156 | chr2:179391885;179391884;179391883 |
| Novex-1 | 27004 | 81235;81236;81237 | chr2:178527158;178527157;178527156 | chr2:179391885;179391884;179391883 |
| Novex-2 | 27071 | 81436;81437;81438 | chr2:178527158;178527157;178527156 | chr2:179391885;179391884;179391883 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/K | None | None | 0.997 | N | 0.448 | 0.372 | 0.231231049324 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | -0.358(OBSL1) -0.122(OBSCN) | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.8594 | likely_pathogenic | 0.8468 | pathogenic | -1.159 | Destabilizing | 0.999 | D | 0.525 | neutral | None | None | None | -0.658(OBSL1) -0.282(OBSCN) | N |
| R/C | 0.4238 | ambiguous | 0.4124 | ambiguous | -1.015 | Destabilizing | 1.0 | D | 0.759 | deleterious | None | None | None | -0.977(OBSL1) -0.742(OBSCN) | N |
| R/D | 0.904 | likely_pathogenic | 0.8964 | pathogenic | -0.187 | Destabilizing | 1.0 | D | 0.71 | prob.delet. | None | None | None | 0.351(OBSL1) 0.708(OBSCN) | N |
| R/E | 0.763 | likely_pathogenic | 0.7591 | pathogenic | -0.016 | Destabilizing | 0.999 | D | 0.581 | neutral | None | None | None | 0.303(OBSL1) 0.645(OBSCN) | N |
| R/F | 0.9205 | likely_pathogenic | 0.9075 | pathogenic | -0.739 | Destabilizing | 1.0 | D | 0.753 | deleterious | None | None | None | -0.156(OBSL1) 0.007(OBSCN) | N |
| R/G | 0.7557 | likely_pathogenic | 0.7193 | pathogenic | -1.521 | Destabilizing | 1.0 | D | 0.695 | prob.neutral | N | 0.475778741 | None | -0.675(OBSL1) -0.273(OBSCN) | N |
| R/H | 0.2175 | likely_benign | 0.2013 | benign | -1.75 | Destabilizing | 1.0 | D | 0.737 | prob.delet. | None | None | None | 0.435(OBSL1) 0.298(OBSCN) | N |
| R/I | 0.6814 | likely_pathogenic | 0.6652 | pathogenic | -0.157 | Destabilizing | 1.0 | D | 0.753 | deleterious | None | None | None | -0.65(OBSL1) -0.355(OBSCN) | N |
| R/K | 0.3309 | likely_benign | 0.3327 | benign | -0.969 | Destabilizing | 0.997 | D | 0.448 | neutral | N | 0.493537498 | None | -0.358(OBSL1) -0.122(OBSCN) | N |
| R/L | 0.6431 | likely_pathogenic | 0.6092 | pathogenic | -0.157 | Destabilizing | 1.0 | D | 0.695 | prob.neutral | None | None | None | -0.65(OBSL1) -0.355(OBSCN) | N |
| R/M | 0.8135 | likely_pathogenic | 0.7946 | pathogenic | -0.519 | Destabilizing | 1.0 | D | 0.735 | prob.delet. | N | 0.492935171 | None | -0.924(OBSL1) -0.583(OBSCN) | N |
| R/N | 0.825 | likely_pathogenic | 0.8118 | pathogenic | -0.561 | Destabilizing | 1.0 | D | 0.713 | prob.delet. | None | None | None | 0.386(OBSL1) 0.549(OBSCN) | N |
| R/P | 0.8632 | likely_pathogenic | 0.8589 | pathogenic | -0.472 | Destabilizing | 1.0 | D | 0.692 | prob.neutral | None | None | None | -0.645(OBSL1) -0.323(OBSCN) | N |
| R/Q | 0.2462 | likely_benign | 0.2404 | benign | -0.625 | Destabilizing | 1.0 | D | 0.693 | prob.neutral | None | None | None | 0.196(OBSL1) 0.45(OBSCN) | N |
| R/S | 0.8507 | likely_pathogenic | 0.8365 | pathogenic | -1.422 | Destabilizing | 1.0 | D | 0.729 | prob.delet. | N | 0.481463507 | None | -0.032(OBSL1) 0.309(OBSCN) | N |
| R/T | 0.7485 | likely_pathogenic | 0.7305 | pathogenic | -1.039 | Destabilizing | 1.0 | D | 0.727 | prob.delet. | N | 0.485742694 | None | -0.08(OBSL1) 0.23(OBSCN) | N |
| R/V | 0.7973 | likely_pathogenic | 0.7973 | pathogenic | -0.472 | Destabilizing | 1.0 | D | 0.732 | prob.delet. | None | None | None | -0.645(OBSL1) -0.323(OBSCN) | N |
| R/W | 0.5634 | ambiguous | 0.5147 | ambiguous | -0.298 | Destabilizing | 1.0 | D | 0.755 | deleterious | N | 0.513761678 | None | -0.033(OBSL1) -0.015(OBSCN) | N |
| R/Y | 0.7721 | likely_pathogenic | 0.7566 | pathogenic | -0.066 | Destabilizing | 1.0 | D | 0.729 | prob.delet. | None | None | None | 0.058(OBSL1) 0.114(OBSCN) | 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.