Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 159 | 700;701;702 | chr2:178800503;178800502;178800501 | chr2:179665230;179665229;179665228 |
| N2AB | 159 | 700;701;702 | chr2:178800503;178800502;178800501 | chr2:179665230;179665229;179665228 |
| N2A | 159 | 700;701;702 | chr2:178800503;178800502;178800501 | chr2:179665230;179665229;179665228 |
| N2B | 159 | 700;701;702 | chr2:178800503;178800502;178800501 | chr2:179665230;179665229;179665228 |
| Novex-1 | 159 | 700;701;702 | chr2:178800503;178800502;178800501 | chr2:179665230;179665229;179665228 |
| Novex-2 | 159 | 700;701;702 | chr2:178800503;178800502;178800501 | chr2:179665230;179665229;179665228 |
| Novex-3 | 159 | 700;701;702 | chr2:178800503;178800502;178800501 | chr2:179665230;179665229;179665228 |
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 | rs765935940  |
-1.933 | 0.996 | N | 0.797 | 0.678 | 0.636279831468 | gnomAD-2.1.1 | 7.95E-06 | None | None | None | -0.871(TCAP) | N | None | 0 | 0 | None | 0 | 0 | None | 6.53E-05 | None | 0 | 0 | 0 |
| Y/C | rs765935940 |
-1.933 | 0.996 | N | 0.797 | 0.678 | 0.636279831468 | gnomAD-4.0.0 | 2.73623E-06 | None | None | None | -0.871(TCAP) | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 4.63725E-05 | 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 | 0.9497 | likely_pathogenic | 0.9623 | pathogenic | -2.602 | Highly Destabilizing | 0.851 | D | 0.678 | prob.neutral | None | None | None | -0.371(TCAP) | N |
| Y/C | 0.6805 | likely_pathogenic | 0.7424 | pathogenic | -1.557 | Destabilizing | 0.996 | D | 0.797 | deleterious | N | 0.499454014 | None | -0.871(TCAP) | N |
| Y/D | 0.9675 | likely_pathogenic | 0.9745 | pathogenic | -2.353 | Highly Destabilizing | 0.968 | D | 0.813 | deleterious | D | 0.619561904 | None | -0.762(TCAP) | N |
| Y/E | 0.9884 | likely_pathogenic | 0.9918 | pathogenic | -2.144 | Highly Destabilizing | 0.952 | D | 0.739 | prob.delet. | None | None | None | -0.869(TCAP) | N |
| Y/F | 0.1554 | likely_benign | 0.1718 | benign | -0.799 | Destabilizing | 0.676 | D | 0.607 | neutral | N | 0.502304832 | None | -0.753(TCAP) | N |
| Y/G | 0.9687 | likely_pathogenic | 0.9737 | pathogenic | -3.023 | Highly Destabilizing | 0.851 | D | 0.757 | deleterious | None | None | None | -0.263(TCAP) | N |
| Y/H | 0.6141 | likely_pathogenic | 0.6893 | pathogenic | -1.635 | Destabilizing | 0.948 | D | 0.756 | deleterious | N | 0.465945929 | None | -0.046(TCAP) | N |
| Y/I | 0.8548 | likely_pathogenic | 0.8858 | pathogenic | -1.234 | Destabilizing | 0.608 | D | 0.75 | deleterious | None | None | None | -0.742(TCAP) | N |
| Y/K | 0.9821 | likely_pathogenic | 0.987 | pathogenic | -1.593 | Destabilizing | 0.708 | D | 0.737 | prob.delet. | None | None | None | -0.878(TCAP) | N |
| Y/L | 0.7831 | likely_pathogenic | 0.8146 | pathogenic | -1.234 | Destabilizing | 0.306 | N | 0.673 | neutral | None | None | None | -0.742(TCAP) | N |
| Y/M | 0.9346 | likely_pathogenic | 0.9486 | pathogenic | -1.163 | Destabilizing | 0.996 | D | 0.78 | deleterious | None | None | None | -0.898(TCAP) | N |
| Y/N | 0.8513 | likely_pathogenic | 0.8859 | pathogenic | -2.273 | Highly Destabilizing | 0.938 | D | 0.771 | deleterious | N | 0.51604798 | None | -0.907(TCAP) | N |
| Y/P | 0.9954 | likely_pathogenic | 0.9962 | pathogenic | -1.7 | Destabilizing | 0.976 | D | 0.84 | deleterious | None | None | None | -0.612(TCAP) | N |
| Y/Q | 0.9608 | likely_pathogenic | 0.9738 | pathogenic | -2.018 | Highly Destabilizing | 0.923 | D | 0.782 | deleterious | None | None | None | -0.958(TCAP) | N |
| Y/R | 0.9464 | likely_pathogenic | 0.96 | pathogenic | -1.455 | Destabilizing | 0.943 | D | 0.793 | deleterious | None | None | None | -1.01(TCAP) | N |
| Y/S | 0.8435 | likely_pathogenic | 0.8797 | pathogenic | -2.777 | Highly Destabilizing | 0.059 | N | 0.65 | neutral | N | 0.46584577 | None | -0.41(TCAP) | N |
| Y/T | 0.9277 | likely_pathogenic | 0.9498 | pathogenic | -2.444 | Highly Destabilizing | 0.952 | D | 0.743 | deleterious | None | None | None | -0.539(TCAP) | N |
| Y/V | 0.7903 | likely_pathogenic | 0.8303 | pathogenic | -1.7 | Destabilizing | 0.976 | D | 0.723 | prob.delet. | None | None | None | -0.612(TCAP) | N |
| Y/W | 0.7046 | likely_pathogenic | 0.7228 | pathogenic | -0.075 | Destabilizing | 0.998 | D | 0.752 | deleterious | None | None | None | -1.308(TCAP) | 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.