Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 13706 | 41341;41342;41343 | chr2:178636611;178636610;178636609 | chr2:179501338;179501337;179501336 |
| N2AB | 12065 | 36418;36419;36420 | chr2:178636611;178636610;178636609 | chr2:179501338;179501337;179501336 |
| N2A | 11138 | 33637;33638;33639 | chr2:178636611;178636610;178636609 | chr2:179501338;179501337;179501336 |
| N2B | 4641 | 14146;14147;14148 | chr2:178636611;178636610;178636609 | chr2:179501338;179501337;179501336 |
| Novex-1 | 4766 | 14521;14522;14523 | chr2:178636611;178636610;178636609 | chr2:179501338;179501337;179501336 |
| Novex-2 | 4833 | 14722;14723;14724 | chr2:178636611;178636610;178636609 | chr2:179501338;179501337;179501336 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/L | rs748084644  |
-1.259 | 0.999 | N | 0.657 | 0.58 | 0.482061804652 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| F/L | rs748084644 |
-1.259 | 0.999 | N | 0.657 | 0.58 | 0.482061804652 | gnomAD-4.0.0 | 1.59207E-06 | None | None | None | None | N | None | 0 | 2.28707E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/A | 0.9982 | likely_pathogenic | 0.9992 | pathogenic | -1.917 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| F/C | 0.9962 | likely_pathogenic | 0.9983 | pathogenic | -0.689 | Destabilizing | 1.0 | D | 0.895 | deleterious | D | 0.773618655 | None | None | N |
| F/D | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -2.981 | Highly Destabilizing | 1.0 | D | 0.901 | deleterious | None | None | None | None | N |
| F/E | 0.9998 | likely_pathogenic | 0.9999 | pathogenic | -2.737 | Highly Destabilizing | 1.0 | D | 0.907 | deleterious | None | None | None | None | N |
| F/G | 0.9992 | likely_pathogenic | 0.9995 | pathogenic | -2.361 | Highly Destabilizing | 1.0 | D | 0.913 | deleterious | None | None | None | None | N |
| F/H | 0.9986 | likely_pathogenic | 0.9992 | pathogenic | -1.813 | Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| F/I | 0.967 | likely_pathogenic | 0.9817 | pathogenic | -0.458 | Destabilizing | 1.0 | D | 0.785 | deleterious | D | 0.533877284 | None | None | N |
| F/K | 0.9997 | likely_pathogenic | 0.9998 | pathogenic | -1.58 | Destabilizing | 1.0 | D | 0.903 | deleterious | None | None | None | None | N |
| F/L | 0.9842 | likely_pathogenic | 0.9909 | pathogenic | -0.458 | Destabilizing | 0.999 | D | 0.657 | neutral | N | 0.476676661 | None | None | N |
| F/M | 0.9725 | likely_pathogenic | 0.9808 | pathogenic | -0.23 | Destabilizing | 1.0 | D | 0.767 | deleterious | None | None | None | None | N |
| F/N | 0.9997 | likely_pathogenic | 0.9998 | pathogenic | -2.336 | Highly Destabilizing | 1.0 | D | 0.912 | deleterious | None | None | None | None | N |
| F/P | 1.0 | likely_pathogenic | 1.0 | pathogenic | -0.958 | Destabilizing | 1.0 | D | 0.921 | deleterious | None | None | None | None | N |
| F/Q | 0.9996 | likely_pathogenic | 0.9997 | pathogenic | -2.029 | Highly Destabilizing | 1.0 | D | 0.919 | deleterious | None | None | None | None | N |
| F/R | 0.9989 | likely_pathogenic | 0.9994 | pathogenic | -1.772 | Destabilizing | 1.0 | D | 0.914 | deleterious | None | None | None | None | N |
| F/S | 0.9993 | likely_pathogenic | 0.9997 | pathogenic | -2.616 | Highly Destabilizing | 1.0 | D | 0.913 | deleterious | D | 0.773618655 | None | None | N |
| F/T | 0.9991 | likely_pathogenic | 0.9995 | pathogenic | -2.243 | Highly Destabilizing | 1.0 | D | 0.913 | deleterious | None | None | None | None | N |
| F/V | 0.9788 | likely_pathogenic | 0.9894 | pathogenic | -0.958 | Destabilizing | 1.0 | D | 0.803 | deleterious | D | 0.590688186 | None | None | N |
| F/W | 0.9792 | likely_pathogenic | 0.9845 | pathogenic | -0.072 | Destabilizing | 1.0 | D | 0.741 | deleterious | None | None | None | None | N |
| F/Y | 0.91 | likely_pathogenic | 0.94 | pathogenic | -0.415 | Destabilizing | 0.999 | D | 0.643 | neutral | D | 0.773566062 | 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.