Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33326 | 100201;100202;100203 | chr2:178537133;178537132;178537131 | chr2:179401860;179401859;179401858 |
| N2AB | 31685 | 95278;95279;95280 | chr2:178537133;178537132;178537131 | chr2:179401860;179401859;179401858 |
| N2A | 30758 | 92497;92498;92499 | chr2:178537133;178537132;178537131 | chr2:179401860;179401859;179401858 |
| N2B | 24261 | 73006;73007;73008 | chr2:178537133;178537132;178537131 | chr2:179401860;179401859;179401858 |
| Novex-1 | 24386 | 73381;73382;73383 | chr2:178537133;178537132;178537131 | chr2:179401860;179401859;179401858 |
| Novex-2 | 24453 | 73582;73583;73584 | chr2:178537133;178537132;178537131 | chr2:179401860;179401859;179401858 |
| 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 | rs1337736297  |
-2.195 | 1.0 | D | 0.864 | 0.883 | 0.842814614967 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 2.91E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| Y/C | rs1337736297 |
-2.195 | 1.0 | D | 0.864 | 0.883 | 0.842814614967 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/A | 0.9982 | likely_pathogenic | 0.9974 | pathogenic | -3.778 | Highly Destabilizing | 1.0 | D | 0.784 | deleterious | None | None | None | None | N |
| Y/C | 0.9682 | likely_pathogenic | 0.9636 | pathogenic | -2.134 | Highly Destabilizing | 1.0 | D | 0.864 | deleterious | D | 0.652798341 | None | None | N |
| Y/D | 0.9977 | likely_pathogenic | 0.9965 | pathogenic | -3.918 | Highly Destabilizing | 1.0 | D | 0.902 | deleterious | D | 0.653201949 | None | None | N |
| Y/E | 0.9996 | likely_pathogenic | 0.9994 | pathogenic | -3.702 | Highly Destabilizing | 1.0 | D | 0.897 | deleterious | None | None | None | None | N |
| Y/F | 0.3462 | ambiguous | 0.3309 | benign | -1.565 | Destabilizing | 0.999 | D | 0.641 | neutral | D | 0.547599188 | None | None | N |
| Y/G | 0.9948 | likely_pathogenic | 0.9933 | pathogenic | -4.174 | Highly Destabilizing | 1.0 | D | 0.915 | deleterious | None | None | None | None | N |
| Y/H | 0.9888 | likely_pathogenic | 0.9841 | pathogenic | -2.841 | Highly Destabilizing | 1.0 | D | 0.821 | deleterious | D | 0.652798341 | None | None | N |
| Y/I | 0.9855 | likely_pathogenic | 0.9802 | pathogenic | -2.422 | Highly Destabilizing | 1.0 | D | 0.868 | deleterious | None | None | None | None | N |
| Y/K | 0.9993 | likely_pathogenic | 0.9992 | pathogenic | -2.577 | Highly Destabilizing | 1.0 | D | 0.893 | deleterious | None | None | None | None | N |
| Y/L | 0.9691 | likely_pathogenic | 0.9603 | pathogenic | -2.422 | Highly Destabilizing | 0.999 | D | 0.728 | prob.delet. | None | None | None | None | N |
| Y/M | 0.9926 | likely_pathogenic | 0.991 | pathogenic | -2.168 | Highly Destabilizing | 1.0 | D | 0.838 | deleterious | None | None | None | None | N |
| Y/N | 0.9892 | likely_pathogenic | 0.9862 | pathogenic | -3.329 | Highly Destabilizing | 1.0 | D | 0.886 | deleterious | D | 0.653201949 | None | None | N |
| Y/P | 0.9997 | likely_pathogenic | 0.9995 | pathogenic | -2.894 | Highly Destabilizing | 1.0 | D | 0.929 | deleterious | None | None | None | None | N |
| Y/Q | 0.9993 | likely_pathogenic | 0.9991 | pathogenic | -3.076 | Highly Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| Y/R | 0.9969 | likely_pathogenic | 0.9962 | pathogenic | -2.306 | Highly Destabilizing | 1.0 | D | 0.889 | deleterious | None | None | None | None | N |
| Y/S | 0.9935 | likely_pathogenic | 0.9911 | pathogenic | -3.648 | Highly Destabilizing | 1.0 | D | 0.899 | deleterious | D | 0.653201949 | None | None | N |
| Y/T | 0.9966 | likely_pathogenic | 0.9954 | pathogenic | -3.314 | Highly Destabilizing | 1.0 | D | 0.898 | deleterious | None | None | None | None | N |
| Y/V | 0.9739 | likely_pathogenic | 0.9656 | pathogenic | -2.894 | Highly Destabilizing | 1.0 | D | 0.757 | deleterious | None | None | None | None | N |
| Y/W | 0.9252 | likely_pathogenic | 0.9172 | pathogenic | -0.739 | Destabilizing | 1.0 | D | 0.799 | 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.