Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20829 | 62710;62711;62712 | chr2:178589240;178589239;178589238 | chr2:179453967;179453966;179453965 |
| N2AB | 19188 | 57787;57788;57789 | chr2:178589240;178589239;178589238 | chr2:179453967;179453966;179453965 |
| N2A | 18261 | 55006;55007;55008 | chr2:178589240;178589239;178589238 | chr2:179453967;179453966;179453965 |
| N2B | 11764 | 35515;35516;35517 | chr2:178589240;178589239;178589238 | chr2:179453967;179453966;179453965 |
| Novex-1 | 11889 | 35890;35891;35892 | chr2:178589240;178589239;178589238 | chr2:179453967;179453966;179453965 |
| Novex-2 | 11956 | 36091;36092;36093 | chr2:178589240;178589239;178589238 | chr2:179453967;179453966;179453965 |
| 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 | rs878916429  |
-1.003 | 0.999 | N | 0.854 | 0.419 | 0.344945010812 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 6.46E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| F/C | rs878916429 |
-1.003 | 0.999 | N | 0.854 | 0.419 | 0.344945010812 | gnomAD-3.1.2 | 3.95E-05 | None | None | None | None | N | None | 7.24E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 4.41E-05 | 0 | 0 |
| F/C | rs878916429 |
-1.003 | 0.999 | N | 0.854 | 0.419 | 0.344945010812 | gnomAD-4.0.0 | 1.48758E-05 | None | None | None | None | N | None | 5.34088E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 1.69546E-05 | 0 | 0 |
| F/L | None | None | 0.76 | N | 0.679 | 0.202 | 0.137902524267 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 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 | 0.9734 | likely_pathogenic | 0.9793 | pathogenic | -1.905 | Destabilizing | 0.953 | D | 0.843 | deleterious | None | None | None | None | N |
| F/C | 0.8326 | likely_pathogenic | 0.8802 | pathogenic | -1.565 | Destabilizing | 0.999 | D | 0.854 | deleterious | N | 0.50817609 | None | None | N |
| F/D | 0.9991 | likely_pathogenic | 0.9993 | pathogenic | -3.022 | Highly Destabilizing | 0.998 | D | 0.871 | deleterious | None | None | None | None | N |
| F/E | 0.9985 | likely_pathogenic | 0.9987 | pathogenic | -2.774 | Highly Destabilizing | 0.998 | D | 0.869 | deleterious | None | None | None | None | N |
| F/G | 0.9915 | likely_pathogenic | 0.9932 | pathogenic | -2.367 | Highly Destabilizing | 0.998 | D | 0.86 | deleterious | None | None | None | None | N |
| F/H | 0.9922 | likely_pathogenic | 0.9934 | pathogenic | -1.799 | Destabilizing | 0.999 | D | 0.767 | deleterious | None | None | None | None | N |
| F/I | 0.4175 | ambiguous | 0.4646 | ambiguous | -0.4 | Destabilizing | 0.1 | N | 0.435 | neutral | N | 0.432291464 | None | None | N |
| F/K | 0.9986 | likely_pathogenic | 0.9987 | pathogenic | -2.061 | Highly Destabilizing | 0.993 | D | 0.869 | deleterious | None | None | None | None | N |
| F/L | 0.8511 | likely_pathogenic | 0.8769 | pathogenic | -0.4 | Destabilizing | 0.76 | D | 0.679 | prob.neutral | N | 0.28418801 | None | None | N |
| F/M | 0.79 | likely_pathogenic | 0.8289 | pathogenic | -0.422 | Destabilizing | 0.986 | D | 0.652 | neutral | None | None | None | None | N |
| F/N | 0.997 | likely_pathogenic | 0.9975 | pathogenic | -2.791 | Highly Destabilizing | 0.998 | D | 0.877 | deleterious | None | None | None | None | N |
| F/P | 0.9996 | likely_pathogenic | 0.9997 | pathogenic | -0.914 | Destabilizing | 0.998 | D | 0.882 | deleterious | None | None | None | None | N |
| F/Q | 0.9974 | likely_pathogenic | 0.9977 | pathogenic | -2.468 | Highly Destabilizing | 0.999 | D | 0.882 | deleterious | None | None | None | None | N |
| F/R | 0.996 | likely_pathogenic | 0.9962 | pathogenic | -2.158 | Highly Destabilizing | 0.998 | D | 0.885 | deleterious | None | None | None | None | N |
| F/S | 0.9948 | likely_pathogenic | 0.9961 | pathogenic | -3.198 | Highly Destabilizing | 0.991 | D | 0.843 | deleterious | N | 0.458908118 | None | None | N |
| F/T | 0.9913 | likely_pathogenic | 0.9932 | pathogenic | -2.813 | Highly Destabilizing | 0.986 | D | 0.829 | deleterious | None | None | None | None | N |
| F/V | 0.5311 | ambiguous | 0.5714 | pathogenic | -0.914 | Destabilizing | 0.885 | D | 0.775 | deleterious | N | 0.389791481 | None | None | N |
| F/W | 0.9122 | likely_pathogenic | 0.9264 | pathogenic | -0.14 | Destabilizing | 0.999 | D | 0.644 | neutral | None | None | None | None | N |
| F/Y | 0.5011 | ambiguous | 0.5365 | ambiguous | -0.447 | Destabilizing | 0.99 | D | 0.624 | neutral | N | 0.457632626 | 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.