Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 22737 | 68434;68435;68436 | chr2:178578821;178578820;178578819 | chr2:179443548;179443547;179443546 |
| N2AB | 21096 | 63511;63512;63513 | chr2:178578821;178578820;178578819 | chr2:179443548;179443547;179443546 |
| N2A | 20169 | 60730;60731;60732 | chr2:178578821;178578820;178578819 | chr2:179443548;179443547;179443546 |
| N2B | 13672 | 41239;41240;41241 | chr2:178578821;178578820;178578819 | chr2:179443548;179443547;179443546 |
| Novex-1 | 13797 | 41614;41615;41616 | chr2:178578821;178578820;178578819 | chr2:179443548;179443547;179443546 |
| Novex-2 | 13864 | 41815;41816;41817 | chr2:178578821;178578820;178578819 | chr2:179443548;179443547;179443546 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/E | rs372975579  |
-3.122 | 1.0 | N | 0.752 | 0.47 | 0.622146358133 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 9.98E-05 | None | 0 | 0 | 0 |
| A/E | rs372975579 |
-3.122 | 1.0 | N | 0.752 | 0.47 | 0.622146358133 | gnomAD-4.0.0 | 6.1723E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.04988E-04 | 0 |
| A/G | None | None | 1.0 | N | 0.563 | 0.362 | 0.506912157699 | gnomAD-4.0.0 | 1.37162E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.80223E-06 | 0 | 0 |
| A/P | None | None | 1.0 | N | 0.77 | 0.453 | 0.499023863368 | gnomAD-4.0.0 | 1.59836E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.87272E-06 | 0 | 0 |
| A/T | None | None | 1.0 | N | 0.729 | 0.292 | 0.425615883737 | gnomAD-4.0.0 | 1.59836E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.03509E-05 |
| A/V | rs372975579 |
-0.667 | 1.0 | N | 0.651 | 0.314 | None | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 0 | 0 | None | 1.00241E-04 | 0 | None | 0 | None | 0 | 1.79E-05 | 0 |
| A/V | rs372975579 |
-0.667 | 1.0 | N | 0.651 | 0.314 | None | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 4.42E-05 | 0 | 0 |
| A/V | rs372975579 |
-0.667 | 1.0 | N | 0.651 | 0.314 | None | gnomAD-4.0.0 | 2.36018E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.80212E-05 | 2.20892E-05 | 4.81541E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.6658 | likely_pathogenic | 0.7175 | pathogenic | -1.644 | Destabilizing | 1.0 | D | 0.717 | prob.delet. | None | None | None | None | N |
| A/D | 0.9976 | likely_pathogenic | 0.9969 | pathogenic | -2.786 | Highly Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | N |
| A/E | 0.9935 | likely_pathogenic | 0.9923 | pathogenic | -2.593 | Highly Destabilizing | 1.0 | D | 0.752 | deleterious | N | 0.521109193 | None | None | N |
| A/F | 0.9672 | likely_pathogenic | 0.9598 | pathogenic | -0.761 | Destabilizing | 1.0 | D | 0.792 | deleterious | None | None | None | None | N |
| A/G | 0.5913 | likely_pathogenic | 0.5597 | ambiguous | -1.754 | Destabilizing | 1.0 | D | 0.563 | neutral | N | 0.520855703 | None | None | N |
| A/H | 0.9957 | likely_pathogenic | 0.9955 | pathogenic | -1.979 | Destabilizing | 1.0 | D | 0.788 | deleterious | None | None | None | None | N |
| A/I | 0.7145 | likely_pathogenic | 0.676 | pathogenic | -0.117 | Destabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | N |
| A/K | 0.9976 | likely_pathogenic | 0.9972 | pathogenic | -1.313 | Destabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | N |
| A/L | 0.6674 | likely_pathogenic | 0.6618 | pathogenic | -0.117 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | N |
| A/M | 0.8486 | likely_pathogenic | 0.8352 | pathogenic | -0.59 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | N |
| A/N | 0.9847 | likely_pathogenic | 0.9826 | pathogenic | -1.696 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | N |
| A/P | 0.7714 | likely_pathogenic | 0.731 | pathogenic | -0.475 | Destabilizing | 1.0 | D | 0.77 | deleterious | N | 0.494357657 | None | None | N |
| A/Q | 0.9854 | likely_pathogenic | 0.9841 | pathogenic | -1.52 | Destabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | N |
| A/R | 0.9899 | likely_pathogenic | 0.9891 | pathogenic | -1.366 | Destabilizing | 1.0 | D | 0.774 | deleterious | None | None | None | None | N |
| A/S | 0.4193 | ambiguous | 0.4082 | ambiguous | -2.067 | Highly Destabilizing | 0.999 | D | 0.609 | neutral | N | 0.520095235 | None | None | N |
| A/T | 0.6084 | likely_pathogenic | 0.5982 | pathogenic | -1.758 | Destabilizing | 1.0 | D | 0.729 | deleterious | N | 0.481733904 | None | None | N |
| A/V | 0.4313 | ambiguous | 0.3945 | ambiguous | -0.475 | Destabilizing | 1.0 | D | 0.651 | prob.neutral | N | 0.472335701 | None | None | N |
| A/W | 0.9973 | likely_pathogenic | 0.9971 | pathogenic | -1.472 | Destabilizing | 1.0 | D | 0.748 | deleterious | None | None | None | None | N |
| A/Y | 0.9908 | likely_pathogenic | 0.9901 | pathogenic | -0.998 | Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | 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.