Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31882 | 95869;95870;95871 | chr2:178545466;178545465;178545464 | chr2:179410193;179410192;179410191 |
| N2AB | 30241 | 90946;90947;90948 | chr2:178545466;178545465;178545464 | chr2:179410193;179410192;179410191 |
| N2A | 29314 | 88165;88166;88167 | chr2:178545466;178545465;178545464 | chr2:179410193;179410192;179410191 |
| N2B | 22817 | 68674;68675;68676 | chr2:178545466;178545465;178545464 | chr2:179410193;179410192;179410191 |
| Novex-1 | 22942 | 69049;69050;69051 | chr2:178545466;178545465;178545464 | chr2:179410193;179410192;179410191 |
| Novex-2 | 23009 | 69250;69251;69252 | chr2:178545466;178545465;178545464 | chr2:179410193;179410192;179410191 |
| 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/Q | rs767746607  |
-1.021 | 1.0 | N | 0.777 | 0.539 | 0.358948522604 | gnomAD-2.1.1 | 1.79E-05 | None | None | None | None | N | None | 4.13E-05 | 0 | None | 0 | 1.02543E-04 | None | 0 | None | 0 | 1.57E-05 | 0 |
| R/Q | rs767746607 |
-1.021 | 1.0 | N | 0.777 | 0.539 | 0.358948522604 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| R/Q | rs767746607 |
-1.021 | 1.0 | N | 0.777 | 0.539 | 0.358948522604 | gnomAD-4.0.0 | 7.44054E-06 | None | None | None | None | N | None | 2.67115E-05 | 1.6675E-05 | None | 0 | 1.33738E-04 | None | 0 | 0 | 2.54432E-06 | 0 | 0 |
| R/W | rs745999245 |
-1.067 | 1.0 | D | 0.853 | 0.605 | 0.757659015073 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.92E-06 | 0 |
| R/W | rs745999245 |
-1.067 | 1.0 | D | 0.853 | 0.605 | 0.757659015073 | gnomAD-4.0.0 | 9.58388E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.25996E-05 | 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 | 0.9633 | likely_pathogenic | 0.9689 | pathogenic | -1.976 | Destabilizing | 0.999 | D | 0.679 | prob.neutral | None | None | None | None | N |
| R/C | 0.4738 | ambiguous | 0.4872 | ambiguous | -1.926 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| R/D | 0.9971 | likely_pathogenic | 0.9979 | pathogenic | -0.712 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| R/E | 0.9365 | likely_pathogenic | 0.9524 | pathogenic | -0.522 | Destabilizing | 0.999 | D | 0.68 | prob.neutral | None | None | None | None | N |
| R/F | 0.9652 | likely_pathogenic | 0.9657 | pathogenic | -1.474 | Destabilizing | 1.0 | D | 0.884 | deleterious | None | None | None | None | N |
| R/G | 0.9751 | likely_pathogenic | 0.9778 | pathogenic | -2.316 | Highly Destabilizing | 1.0 | D | 0.78 | deleterious | D | 0.560238354 | None | None | N |
| R/H | 0.292 | likely_benign | 0.2984 | benign | -2.203 | Highly Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | N |
| R/I | 0.9011 | likely_pathogenic | 0.9122 | pathogenic | -1.005 | Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | N |
| R/K | 0.401 | ambiguous | 0.4628 | ambiguous | -1.484 | Destabilizing | 0.998 | D | 0.667 | neutral | None | None | None | None | N |
| R/L | 0.8483 | likely_pathogenic | 0.8609 | pathogenic | -1.005 | Destabilizing | 1.0 | D | 0.78 | deleterious | D | 0.533993797 | None | None | N |
| R/M | 0.9008 | likely_pathogenic | 0.9177 | pathogenic | -1.365 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| R/N | 0.9841 | likely_pathogenic | 0.9867 | pathogenic | -1.21 | Destabilizing | 1.0 | D | 0.757 | deleterious | None | None | None | None | N |
| R/P | 0.9993 | likely_pathogenic | 0.9994 | pathogenic | -1.315 | Destabilizing | 1.0 | D | 0.85 | deleterious | D | 0.560745333 | None | None | N |
| R/Q | 0.306 | likely_benign | 0.3385 | benign | -1.263 | Destabilizing | 1.0 | D | 0.777 | deleterious | N | 0.512456048 | None | None | N |
| R/S | 0.9743 | likely_pathogenic | 0.9758 | pathogenic | -2.241 | Highly Destabilizing | 1.0 | D | 0.75 | deleterious | None | None | None | None | N |
| R/T | 0.9428 | likely_pathogenic | 0.9561 | pathogenic | -1.839 | Destabilizing | 1.0 | D | 0.749 | deleterious | None | None | None | None | N |
| R/V | 0.912 | likely_pathogenic | 0.923 | pathogenic | -1.315 | Destabilizing | 1.0 | D | 0.844 | deleterious | None | None | None | None | N |
| R/W | 0.6822 | likely_pathogenic | 0.6627 | pathogenic | -0.912 | Destabilizing | 1.0 | D | 0.853 | deleterious | D | 0.560491843 | None | None | N |
| R/Y | 0.9034 | likely_pathogenic | 0.9027 | pathogenic | -0.744 | Destabilizing | 1.0 | D | 0.872 | 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.