Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 7232 | 21919;21920;21921 | chr2:178723313;178723312;178723311 | chr2:179588040;179588039;179588038 |
| N2AB | 6915 | 20968;20969;20970 | chr2:178723313;178723312;178723311 | chr2:179588040;179588039;179588038 |
| N2A | 5988 | 18187;18188;18189 | chr2:178723313;178723312;178723311 | chr2:179588040;179588039;179588038 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 | None | None | 0.994 | N | 0.666 | 0.566 | 0.578358932345 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 6.17284E-04 | 0 | 0 | 0 |
| F/V | rs776163887  |
-2.55 | 0.998 | D | 0.806 | 0.632 | 0.874471701311 | gnomAD-2.1.1 | 4.88E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.97377E-04 | None | 0 | 0 | 0 |
| F/V | rs776163887 |
-2.55 | 0.998 | D | 0.806 | 0.632 | 0.874471701311 | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 8.27472E-04 | 0 |
| F/V | rs776163887 |
-2.55 | 0.998 | D | 0.806 | 0.632 | 0.874471701311 | gnomAD-4.0.0 | 2.10943E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 3.63484E-04 | 1.60359E-05 |
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 | 0.9807 | likely_pathogenic | 0.9813 | pathogenic | -3.085 | Highly Destabilizing | 0.996 | D | 0.79 | deleterious | None | None | None | None | N |
| F/C | 0.9313 | likely_pathogenic | 0.9314 | pathogenic | -2.065 | Highly Destabilizing | 1.0 | D | 0.839 | deleterious | D | 0.562136999 | None | None | N |
| F/D | 0.9967 | likely_pathogenic | 0.997 | pathogenic | -2.948 | Highly Destabilizing | 0.999 | D | 0.867 | deleterious | None | None | None | None | N |
| F/E | 0.9968 | likely_pathogenic | 0.997 | pathogenic | -2.841 | Highly Destabilizing | 0.998 | D | 0.854 | deleterious | None | None | None | None | N |
| F/G | 0.9926 | likely_pathogenic | 0.9924 | pathogenic | -3.425 | Highly Destabilizing | 0.999 | D | 0.835 | deleterious | None | None | None | None | N |
| F/H | 0.9782 | likely_pathogenic | 0.978 | pathogenic | -1.607 | Destabilizing | 1.0 | D | 0.77 | deleterious | None | None | None | None | N |
| F/I | 0.7559 | likely_pathogenic | 0.771 | pathogenic | -2.003 | Highly Destabilizing | 0.999 | D | 0.768 | deleterious | N | 0.486203443 | None | None | N |
| F/K | 0.9952 | likely_pathogenic | 0.9957 | pathogenic | -1.808 | Destabilizing | 0.995 | D | 0.833 | deleterious | None | None | None | None | N |
| F/L | 0.9769 | likely_pathogenic | 0.9796 | pathogenic | -2.003 | Highly Destabilizing | 0.994 | D | 0.666 | neutral | N | 0.508959415 | None | None | N |
| F/M | 0.9313 | likely_pathogenic | 0.9339 | pathogenic | -1.83 | Destabilizing | 1.0 | D | 0.741 | deleterious | None | None | None | None | N |
| F/N | 0.986 | likely_pathogenic | 0.9864 | pathogenic | -1.952 | Destabilizing | 0.999 | D | 0.867 | deleterious | None | None | None | None | N |
| F/P | 0.9975 | likely_pathogenic | 0.9977 | pathogenic | -2.368 | Highly Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | N |
| F/Q | 0.9936 | likely_pathogenic | 0.9938 | pathogenic | -2.159 | Highly Destabilizing | 0.998 | D | 0.865 | deleterious | None | None | None | None | N |
| F/R | 0.9884 | likely_pathogenic | 0.9896 | pathogenic | -0.991 | Destabilizing | 0.46 | N | 0.657 | neutral | None | None | None | None | N |
| F/S | 0.975 | likely_pathogenic | 0.9752 | pathogenic | -2.677 | Highly Destabilizing | 0.998 | D | 0.835 | deleterious | D | 0.56163002 | None | None | N |
| F/T | 0.9838 | likely_pathogenic | 0.9845 | pathogenic | -2.476 | Highly Destabilizing | 0.999 | D | 0.837 | deleterious | None | None | None | None | N |
| F/V | 0.7722 | likely_pathogenic | 0.7912 | pathogenic | -2.368 | Highly Destabilizing | 0.998 | D | 0.806 | deleterious | D | 0.531076141 | None | None | N |
| F/W | 0.9217 | likely_pathogenic | 0.9195 | pathogenic | -0.793 | Destabilizing | 1.0 | D | 0.728 | prob.delet. | None | None | None | None | N |
| F/Y | 0.6523 | likely_pathogenic | 0.6566 | pathogenic | -1.103 | Destabilizing | 0.998 | D | 0.662 | neutral | D | 0.55036262 | 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.