Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 10151 | 30676;30677;30678 | chr2:178702228;178702227;178702226 | chr2:179566955;179566954;179566953 |
| N2AB | 9834 | 29725;29726;29727 | chr2:178702228;178702227;178702226 | chr2:179566955;179566954;179566953 |
| N2A | 8907 | 26944;26945;26946 | chr2:178702228;178702227;178702226 | chr2:179566955;179566954;179566953 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/T | rs965765805  |
None | 0.996 | None | 0.665 | 0.364 | 0.547681404787 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 4.83E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/T | rs965765805 |
None | 0.996 | None | 0.665 | 0.364 | 0.547681404787 | gnomAD-4.0.0 | 4.05992E-06 | None | None | None | None | N | None | 3.49577E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 2.40984E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.8987 | likely_pathogenic | 0.8902 | pathogenic | -1.091 | Destabilizing | 1.0 | D | 0.778 | deleterious | None | None | None | None | N |
| A/D | 0.9994 | likely_pathogenic | 0.9994 | pathogenic | -2.366 | Highly Destabilizing | 0.999 | D | 0.85 | deleterious | None | None | None | None | N |
| A/E | 0.9979 | likely_pathogenic | 0.9978 | pathogenic | -2.154 | Highly Destabilizing | 0.999 | D | 0.81 | deleterious | None | None | None | None | N |
| A/F | 0.9914 | likely_pathogenic | 0.991 | pathogenic | -0.628 | Destabilizing | 0.998 | D | 0.839 | deleterious | None | None | None | None | N |
| A/G | 0.8459 | likely_pathogenic | 0.866 | pathogenic | -1.692 | Destabilizing | 0.996 | D | 0.657 | neutral | None | None | None | None | N |
| A/H | 0.9986 | likely_pathogenic | 0.9985 | pathogenic | -1.971 | Destabilizing | 1.0 | D | 0.824 | deleterious | None | None | None | None | N |
| A/I | 0.9457 | likely_pathogenic | 0.9567 | pathogenic | 0.028 | Stabilizing | 0.967 | D | 0.723 | prob.delet. | None | None | None | None | N |
| A/K | 0.9992 | likely_pathogenic | 0.9992 | pathogenic | -1.182 | Destabilizing | 0.999 | D | 0.815 | deleterious | None | None | None | None | N |
| A/L | 0.8798 | likely_pathogenic | 0.8872 | pathogenic | 0.028 | Stabilizing | 0.923 | D | 0.714 | prob.delet. | None | None | None | None | N |
| A/M | 0.9764 | likely_pathogenic | 0.9797 | pathogenic | -0.333 | Destabilizing | 0.998 | D | 0.799 | deleterious | None | None | None | None | N |
| A/N | 0.9983 | likely_pathogenic | 0.9984 | pathogenic | -1.493 | Destabilizing | 0.999 | D | 0.843 | deleterious | None | None | None | None | N |
| A/P | 0.9973 | likely_pathogenic | 0.9976 | pathogenic | -0.351 | Destabilizing | 1.0 | D | 0.822 | deleterious | None | None | None | None | N |
| A/Q | 0.9944 | likely_pathogenic | 0.9945 | pathogenic | -1.282 | Destabilizing | 0.999 | D | 0.809 | deleterious | None | None | None | None | N |
| A/R | 0.9939 | likely_pathogenic | 0.9925 | pathogenic | -1.277 | Destabilizing | 0.999 | D | 0.811 | deleterious | None | None | None | None | N |
| A/S | 0.721 | likely_pathogenic | 0.7509 | pathogenic | -1.885 | Destabilizing | 0.996 | D | 0.655 | neutral | None | None | None | None | N |
| A/T | 0.8932 | likely_pathogenic | 0.9101 | pathogenic | -1.558 | Destabilizing | 0.996 | D | 0.665 | neutral | None | None | None | None | N |
| A/V | 0.7957 | likely_pathogenic | 0.8249 | pathogenic | -0.351 | Destabilizing | 0.198 | N | 0.325 | neutral | None | None | None | None | N |
| A/W | 0.9995 | likely_pathogenic | 0.9994 | pathogenic | -1.368 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | N |
| A/Y | 0.9973 | likely_pathogenic | 0.9972 | pathogenic | -0.849 | Destabilizing | 0.999 | D | 0.837 | 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.