Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29726 | 89401;89402;89403 | chr2:178553935;178553934;178553933 | chr2:179418662;179418661;179418660 |
| N2AB | 28085 | 84478;84479;84480 | chr2:178553935;178553934;178553933 | chr2:179418662;179418661;179418660 |
| N2A | 27158 | 81697;81698;81699 | chr2:178553935;178553934;178553933 | chr2:179418662;179418661;179418660 |
| N2B | 20661 | 62206;62207;62208 | chr2:178553935;178553934;178553933 | chr2:179418662;179418661;179418660 |
| Novex-1 | 20786 | 62581;62582;62583 | chr2:178553935;178553934;178553933 | chr2:179418662;179418661;179418660 |
| Novex-2 | 20853 | 62782;62783;62784 | chr2:178553935;178553934;178553933 | chr2:179418662;179418661;179418660 |
| 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 | rs1348960707  |
0.036 | 0.997 | N | 0.807 | 0.27 | 0.571414409706 | gnomAD-2.1.1 | 4.18E-06 | None | None | None | None | N | None | 0 | 2.96E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| Y/C | rs1348960707 |
0.036 | 0.997 | N | 0.807 | 0.27 | 0.571414409706 | gnomAD-4.0.0 | 1.62179E-06 | None | None | None | None | N | None | 0 | 2.3284E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| Y/H | None | None | 0.989 | N | 0.628 | 0.356 | 0.415313616471 | gnomAD-4.0.0 | 3.24086E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.77594E-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 | 0.4425 | ambiguous | 0.4485 | ambiguous | -2.276 | Highly Destabilizing | 0.841 | D | 0.601 | neutral | None | None | None | None | N |
| Y/C | 0.0922 | likely_benign | 0.0943 | benign | -1.107 | Destabilizing | 0.997 | D | 0.807 | deleterious | N | 0.467059463 | None | None | N |
| Y/D | 0.6208 | likely_pathogenic | 0.6041 | pathogenic | -1.351 | Destabilizing | 0.989 | D | 0.823 | deleterious | N | 0.489772074 | None | None | N |
| Y/E | 0.7081 | likely_pathogenic | 0.7263 | pathogenic | -1.219 | Destabilizing | 0.991 | D | 0.777 | deleterious | None | None | None | None | N |
| Y/F | 0.0744 | likely_benign | 0.0809 | benign | -0.802 | Destabilizing | 0.012 | N | 0.348 | neutral | N | 0.474551879 | None | None | N |
| Y/G | 0.5208 | ambiguous | 0.5026 | ambiguous | -2.628 | Highly Destabilizing | 0.974 | D | 0.638 | neutral | None | None | None | None | N |
| Y/H | 0.1559 | likely_benign | 0.161 | benign | -1.014 | Destabilizing | 0.989 | D | 0.628 | neutral | N | 0.471578913 | None | None | N |
| Y/I | 0.3468 | ambiguous | 0.3734 | ambiguous | -1.179 | Destabilizing | 0.725 | D | 0.629 | neutral | None | None | None | None | N |
| Y/K | 0.5908 | likely_pathogenic | 0.625 | pathogenic | -1.448 | Destabilizing | 0.991 | D | 0.78 | deleterious | None | None | None | None | N |
| Y/L | 0.4088 | ambiguous | 0.4272 | ambiguous | -1.179 | Destabilizing | 0.522 | D | 0.629 | neutral | None | None | None | None | N |
| Y/M | 0.5852 | likely_pathogenic | 0.5853 | pathogenic | -0.893 | Destabilizing | 0.974 | D | 0.686 | prob.delet. | None | None | None | None | N |
| Y/N | 0.3837 | ambiguous | 0.39 | ambiguous | -1.969 | Destabilizing | 0.989 | D | 0.821 | deleterious | N | 0.489518584 | None | None | N |
| Y/P | 0.9325 | likely_pathogenic | 0.937 | pathogenic | -1.545 | Destabilizing | 0.991 | D | 0.831 | deleterious | None | None | None | None | N |
| Y/Q | 0.3774 | ambiguous | 0.4108 | ambiguous | -1.793 | Destabilizing | 0.991 | D | 0.68 | prob.neutral | None | None | None | None | N |
| Y/R | 0.3601 | ambiguous | 0.3897 | ambiguous | -1.134 | Destabilizing | 0.991 | D | 0.825 | deleterious | None | None | None | None | N |
| Y/S | 0.2395 | likely_benign | 0.2228 | benign | -2.448 | Highly Destabilizing | 0.966 | D | 0.595 | neutral | N | 0.47714832 | None | None | N |
| Y/T | 0.4117 | ambiguous | 0.3899 | ambiguous | -2.211 | Highly Destabilizing | 0.949 | D | 0.579 | neutral | None | None | None | None | N |
| Y/V | 0.2665 | likely_benign | 0.2841 | benign | -1.545 | Destabilizing | 0.066 | N | 0.439 | neutral | None | None | None | None | N |
| Y/W | 0.4049 | ambiguous | 0.3708 | ambiguous | -0.331 | Destabilizing | 0.998 | D | 0.645 | 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.