Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 21632 | 65119;65120;65121 | chr2:178584747;178584746;178584745 | chr2:179449474;179449473;179449472 |
| N2AB | 19991 | 60196;60197;60198 | chr2:178584747;178584746;178584745 | chr2:179449474;179449473;179449472 |
| N2A | 19064 | 57415;57416;57417 | chr2:178584747;178584746;178584745 | chr2:179449474;179449473;179449472 |
| N2B | 12567 | 37924;37925;37926 | chr2:178584747;178584746;178584745 | chr2:179449474;179449473;179449472 |
| Novex-1 | 12692 | 38299;38300;38301 | chr2:178584747;178584746;178584745 | chr2:179449474;179449473;179449472 |
| Novex-2 | 12759 | 38500;38501;38502 | chr2:178584747;178584746;178584745 | chr2:179449474;179449473;179449472 |
| 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/C | None | None | 1.0 | D | 0.812 | 0.585 | 0.863004777908 | gnomAD-4.0.0 | 1.59188E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85959E-06 | 0 | 0 |
| F/V | None | None | 1.0 | N | 0.674 | 0.593 | 0.831593946108 | gnomAD-4.0.0 | 1.59186E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.4332E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/A | 0.9967 | likely_pathogenic | 0.9973 | pathogenic | -2.42 | Highly Destabilizing | 1.0 | D | 0.738 | prob.delet. | None | None | None | None | N |
| F/C | 0.9638 | likely_pathogenic | 0.9711 | pathogenic | -1.291 | Destabilizing | 1.0 | D | 0.812 | deleterious | D | 0.563267001 | None | None | N |
| F/D | 0.9998 | likely_pathogenic | 0.9999 | pathogenic | -3.454 | Highly Destabilizing | 1.0 | D | 0.828 | deleterious | None | None | None | None | N |
| F/E | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -3.218 | Highly Destabilizing | 1.0 | D | 0.832 | deleterious | None | None | None | None | N |
| F/G | 0.9978 | likely_pathogenic | 0.9985 | pathogenic | -2.854 | Highly Destabilizing | 1.0 | D | 0.826 | deleterious | None | None | None | None | N |
| F/H | 0.9951 | likely_pathogenic | 0.9972 | pathogenic | -2.281 | Highly Destabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | N |
| F/I | 0.9011 | likely_pathogenic | 0.8832 | pathogenic | -0.982 | Destabilizing | 1.0 | D | 0.741 | deleterious | N | 0.496135765 | None | None | N |
| F/K | 0.9997 | likely_pathogenic | 0.9998 | pathogenic | -2.256 | Highly Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| F/L | 0.9828 | likely_pathogenic | 0.9828 | pathogenic | -0.982 | Destabilizing | 0.999 | D | 0.66 | neutral | N | 0.497403212 | None | None | N |
| F/M | 0.9519 | likely_pathogenic | 0.9556 | pathogenic | -0.703 | Destabilizing | 1.0 | D | 0.776 | deleterious | None | None | None | None | N |
| F/N | 0.9989 | likely_pathogenic | 0.9994 | pathogenic | -3.023 | Highly Destabilizing | 1.0 | D | 0.868 | deleterious | None | None | None | None | N |
| F/P | 0.9998 | likely_pathogenic | 0.9999 | pathogenic | -1.477 | Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| F/Q | 0.9992 | likely_pathogenic | 0.9995 | pathogenic | -2.731 | Highly Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| F/R | 0.9987 | likely_pathogenic | 0.9992 | pathogenic | -2.297 | Highly Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | N |
| F/S | 0.9968 | likely_pathogenic | 0.9979 | pathogenic | -3.304 | Highly Destabilizing | 1.0 | D | 0.808 | deleterious | D | 0.563267001 | None | None | N |
| F/T | 0.9967 | likely_pathogenic | 0.9977 | pathogenic | -2.942 | Highly Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | N |
| F/V | 0.9101 | likely_pathogenic | 0.9055 | pathogenic | -1.477 | Destabilizing | 1.0 | D | 0.674 | neutral | N | 0.503689727 | None | None | N |
| F/W | 0.9239 | likely_pathogenic | 0.9432 | pathogenic | -0.638 | Destabilizing | 1.0 | D | 0.767 | deleterious | None | None | None | None | N |
| F/Y | 0.7458 | likely_pathogenic | 0.7859 | pathogenic | -1.023 | Destabilizing | 0.999 | D | 0.571 | neutral | N | 0.518549342 | 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.