Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 26083 | 78472;78473;78474 | chr2:178567885;178567884;178567883 | chr2:179432612;179432611;179432610 |
| N2AB | 24442 | 73549;73550;73551 | chr2:178567885;178567884;178567883 | chr2:179432612;179432611;179432610 |
| N2A | 23515 | 70768;70769;70770 | chr2:178567885;178567884;178567883 | chr2:179432612;179432611;179432610 |
| N2B | 17018 | 51277;51278;51279 | chr2:178567885;178567884;178567883 | chr2:179432612;179432611;179432610 |
| Novex-1 | 17143 | 51652;51653;51654 | chr2:178567885;178567884;178567883 | chr2:179432612;179432611;179432610 |
| Novex-2 | 17210 | 51853;51854;51855 | chr2:178567885;178567884;178567883 | chr2:179432612;179432611;179432610 |
| 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 | rs910116004  |
-0.692 | 0.034 | N | 0.513 | 0.26 | 0.416956310301 | gnomAD-2.1.1 | 7.14E-06 | None | None | None | None | N | None | 8.27E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| Y/C | rs910116004 |
-0.692 | 0.034 | N | 0.513 | 0.26 | 0.416956310301 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 4.83E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| Y/C | rs910116004 |
-0.692 | 0.034 | N | 0.513 | 0.26 | 0.416956310301 | gnomAD-4.0.0 | 3.71872E-06 | None | None | None | None | N | None | 8.01175E-05 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/A | 0.3529 | ambiguous | 0.3713 | ambiguous | -2.508 | Highly Destabilizing | 0.938 | D | 0.685 | prob.delet. | None | None | None | None | N |
| Y/C | 0.0785 | likely_benign | 0.0797 | benign | -1.28 | Destabilizing | 0.034 | N | 0.513 | neutral | N | 0.454061964 | None | None | N |
| Y/D | 0.4413 | ambiguous | 0.4374 | ambiguous | -1.891 | Destabilizing | 0.996 | D | 0.757 | deleterious | N | 0.502277198 | None | None | N |
| Y/E | 0.6353 | likely_pathogenic | 0.6447 | pathogenic | -1.732 | Destabilizing | 0.997 | D | 0.763 | deleterious | None | None | None | None | N |
| Y/F | 0.0557 | likely_benign | 0.0556 | benign | -0.914 | Destabilizing | 0.034 | N | 0.277 | neutral | N | 0.434686769 | None | None | N |
| Y/G | 0.4662 | ambiguous | 0.4931 | ambiguous | -2.887 | Highly Destabilizing | 0.991 | D | 0.691 | prob.delet. | None | None | None | None | N |
| Y/H | 0.1677 | likely_benign | 0.1668 | benign | -1.299 | Destabilizing | 0.996 | D | 0.609 | neutral | N | 0.50210384 | None | None | N |
| Y/I | 0.2144 | likely_benign | 0.2201 | benign | -1.297 | Destabilizing | 0.981 | D | 0.68 | prob.neutral | None | None | None | None | N |
| Y/K | 0.5845 | likely_pathogenic | 0.6013 | pathogenic | -1.606 | Destabilizing | 0.997 | D | 0.739 | deleterious | None | None | None | None | N |
| Y/L | 0.296 | likely_benign | 0.3012 | benign | -1.297 | Destabilizing | 0.883 | D | 0.63 | neutral | None | None | None | None | N |
| Y/M | 0.3759 | ambiguous | 0.387 | ambiguous | -0.979 | Destabilizing | 0.999 | D | 0.699 | prob.delet. | None | None | None | None | N |
| Y/N | 0.243 | likely_benign | 0.2527 | benign | -2.184 | Highly Destabilizing | 0.996 | D | 0.769 | deleterious | N | 0.50210384 | None | None | N |
| Y/P | 0.9193 | likely_pathogenic | 0.9239 | pathogenic | -1.706 | Destabilizing | 0.997 | D | 0.761 | deleterious | None | None | None | None | N |
| Y/Q | 0.39 | ambiguous | 0.4087 | ambiguous | -1.993 | Destabilizing | 0.997 | D | 0.69 | prob.delet. | None | None | None | None | N |
| Y/R | 0.3929 | ambiguous | 0.4078 | ambiguous | -1.327 | Destabilizing | 0.997 | D | 0.769 | deleterious | None | None | None | None | N |
| Y/S | 0.1814 | likely_benign | 0.1945 | benign | -2.668 | Highly Destabilizing | 0.988 | D | 0.715 | prob.delet. | N | 0.501410407 | None | None | N |
| Y/T | 0.2775 | likely_benign | 0.2892 | benign | -2.397 | Highly Destabilizing | 0.991 | D | 0.703 | prob.delet. | None | None | None | None | N |
| Y/V | 0.1625 | likely_benign | 0.1719 | benign | -1.706 | Destabilizing | 0.938 | D | 0.627 | neutral | None | None | None | None | N |
| Y/W | 0.4047 | ambiguous | 0.396 | ambiguous | -0.355 | Destabilizing | 0.999 | D | 0.627 | 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.