Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 27820 | 83683;83684;83685 | chr2:178562674;178562673;178562672 | chr2:179427401;179427400;179427399 |
| N2AB | 26179 | 78760;78761;78762 | chr2:178562674;178562673;178562672 | chr2:179427401;179427400;179427399 |
| N2A | 25252 | 75979;75980;75981 | chr2:178562674;178562673;178562672 | chr2:179427401;179427400;179427399 |
| N2B | 18755 | 56488;56489;56490 | chr2:178562674;178562673;178562672 | chr2:179427401;179427400;179427399 |
| Novex-1 | 18880 | 56863;56864;56865 | chr2:178562674;178562673;178562672 | chr2:179427401;179427400;179427399 |
| Novex-2 | 18947 | 57064;57065;57066 | chr2:178562674;178562673;178562672 | chr2:179427401;179427400;179427399 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/Y | rs1170620319  |
-1.525 | 0.999 | N | 0.709 | 0.456 | 0.684702518831 | gnomAD-2.1.1 | 4.31E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.86E-05 | None | 0 | 0 | 0 |
| C/Y | rs1170620319 |
-1.525 | 0.999 | N | 0.709 | 0.456 | 0.684702518831 | gnomAD-4.0.0 | 1.63849E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.52406E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/A | 0.6816 | likely_pathogenic | 0.6849 | pathogenic | -1.742 | Destabilizing | 0.879 | D | 0.581 | neutral | None | None | None | None | N |
| C/D | 0.9737 | likely_pathogenic | 0.9718 | pathogenic | -0.922 | Destabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | N |
| C/E | 0.9851 | likely_pathogenic | 0.9845 | pathogenic | -0.723 | Destabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | N |
| C/F | 0.6468 | likely_pathogenic | 0.6831 | pathogenic | -1.207 | Destabilizing | 0.999 | D | 0.703 | prob.neutral | N | 0.483686142 | None | None | N |
| C/G | 0.574 | likely_pathogenic | 0.579 | pathogenic | -2.098 | Highly Destabilizing | 0.993 | D | 0.75 | deleterious | N | 0.459942665 | None | None | N |
| C/H | 0.9082 | likely_pathogenic | 0.9127 | pathogenic | -2.325 | Highly Destabilizing | 1.0 | D | 0.77 | deleterious | None | None | None | None | N |
| C/I | 0.5829 | likely_pathogenic | 0.5883 | pathogenic | -0.792 | Destabilizing | 0.984 | D | 0.603 | neutral | None | None | None | None | N |
| C/K | 0.989 | likely_pathogenic | 0.9901 | pathogenic | -0.821 | Destabilizing | 1.0 | D | 0.775 | deleterious | None | None | None | None | N |
| C/L | 0.6703 | likely_pathogenic | 0.6927 | pathogenic | -0.792 | Destabilizing | 0.985 | D | 0.605 | neutral | None | None | None | None | N |
| C/M | 0.8054 | likely_pathogenic | 0.813 | pathogenic | 0.111 | Stabilizing | 1.0 | D | 0.679 | prob.neutral | None | None | None | None | N |
| C/N | 0.8063 | likely_pathogenic | 0.7912 | pathogenic | -1.248 | Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | N |
| C/P | 0.9752 | likely_pathogenic | 0.9772 | pathogenic | -1.084 | Destabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | N |
| C/Q | 0.9445 | likely_pathogenic | 0.9429 | pathogenic | -0.895 | Destabilizing | 1.0 | D | 0.782 | deleterious | None | None | None | None | N |
| C/R | 0.9329 | likely_pathogenic | 0.9419 | pathogenic | -1.164 | Destabilizing | 1.0 | D | 0.786 | deleterious | N | 0.502392145 | None | None | N |
| C/S | 0.5404 | ambiguous | 0.529 | ambiguous | -1.65 | Destabilizing | 0.982 | D | 0.678 | prob.neutral | N | 0.461717092 | None | None | N |
| C/T | 0.6796 | likely_pathogenic | 0.6541 | pathogenic | -1.247 | Destabilizing | 0.971 | D | 0.667 | neutral | None | None | None | None | N |
| C/V | 0.4938 | ambiguous | 0.4965 | ambiguous | -1.084 | Destabilizing | 0.128 | N | 0.425 | neutral | None | None | None | None | N |
| C/W | 0.9132 | likely_pathogenic | 0.9336 | pathogenic | -1.427 | Destabilizing | 1.0 | D | 0.709 | prob.delet. | D | 0.525312701 | None | None | N |
| C/Y | 0.8014 | likely_pathogenic | 0.8253 | pathogenic | -1.275 | Destabilizing | 0.999 | D | 0.709 | prob.delet. | N | 0.472076347 | 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.