Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2176 | 6751;6752;6753 | chr2:178775185;178775184;178775183 | chr2:179639912;179639911;179639910 |
| N2AB | 2176 | 6751;6752;6753 | chr2:178775185;178775184;178775183 | chr2:179639912;179639911;179639910 |
| N2A | 2176 | 6751;6752;6753 | chr2:178775185;178775184;178775183 | chr2:179639912;179639911;179639910 |
| N2B | 2130 | 6613;6614;6615 | chr2:178775185;178775184;178775183 | chr2:179639912;179639911;179639910 |
| Novex-1 | 2130 | 6613;6614;6615 | chr2:178775185;178775184;178775183 | chr2:179639912;179639911;179639910 |
| Novex-2 | 2130 | 6613;6614;6615 | chr2:178775185;178775184;178775183 | chr2:179639912;179639911;179639910 |
| Novex-3 | 2176 | 6751;6752;6753 | chr2:178775185;178775184;178775183 | chr2:179639912;179639911;179639910 |
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/L | rs1423674252  |
-1.765 | 0.997 | D | 0.629 | 0.753 | 0.540334051544 | gnomAD-2.1.1 | 7.09E-06 | None | None | None | None | N | None | 0 | 5.65E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| F/L | rs1423674252 |
-1.765 | 0.997 | D | 0.629 | 0.753 | 0.540334051544 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 0 | 1.30941E-04 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| F/L | rs1423674252 |
-1.765 | 0.997 | D | 0.629 | 0.753 | 0.540334051544 | gnomAD-4.0.0 | 5.12319E-06 | None | None | None | None | N | None | 0 | 6.77851E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 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 | 0.9953 | likely_pathogenic | 0.9961 | pathogenic | -2.917 | Highly Destabilizing | 0.999 | D | 0.834 | deleterious | None | None | None | None | N |
| F/C | 0.9852 | likely_pathogenic | 0.9869 | pathogenic | -1.945 | Destabilizing | 1.0 | D | 0.87 | deleterious | D | 0.747730694 | None | None | N |
| F/D | 0.9992 | likely_pathogenic | 0.9993 | pathogenic | -2.889 | Highly Destabilizing | 0.999 | D | 0.86 | deleterious | None | None | None | None | N |
| F/E | 0.9992 | likely_pathogenic | 0.9994 | pathogenic | -2.778 | Highly Destabilizing | 0.999 | D | 0.861 | deleterious | None | None | None | None | N |
| F/G | 0.9983 | likely_pathogenic | 0.9985 | pathogenic | -3.282 | Highly Destabilizing | 0.999 | D | 0.849 | deleterious | None | None | None | None | N |
| F/H | 0.9912 | likely_pathogenic | 0.9921 | pathogenic | -1.566 | Destabilizing | 1.0 | D | 0.836 | deleterious | None | None | None | None | N |
| F/I | 0.8465 | likely_pathogenic | 0.8672 | pathogenic | -1.757 | Destabilizing | 0.999 | D | 0.78 | deleterious | N | 0.516231177 | None | None | N |
| F/K | 0.9986 | likely_pathogenic | 0.9988 | pathogenic | -1.703 | Destabilizing | 0.999 | D | 0.862 | deleterious | None | None | None | None | N |
| F/L | 0.9873 | likely_pathogenic | 0.989 | pathogenic | -1.757 | Destabilizing | 0.997 | D | 0.629 | neutral | D | 0.653866881 | None | None | N |
| F/M | 0.9487 | likely_pathogenic | 0.9535 | pathogenic | -1.56 | Destabilizing | 1.0 | D | 0.782 | deleterious | None | None | None | None | N |
| F/N | 0.9962 | likely_pathogenic | 0.9968 | pathogenic | -1.877 | Destabilizing | 0.999 | D | 0.855 | deleterious | None | None | None | None | N |
| F/P | 0.9989 | likely_pathogenic | 0.9991 | pathogenic | -2.147 | Highly Destabilizing | 1.0 | D | 0.866 | deleterious | None | None | None | None | N |
| F/Q | 0.9982 | likely_pathogenic | 0.9985 | pathogenic | -2.05 | Highly Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| F/R | 0.9964 | likely_pathogenic | 0.9969 | pathogenic | -0.936 | Destabilizing | 0.999 | D | 0.857 | deleterious | None | None | None | None | N |
| F/S | 0.9956 | likely_pathogenic | 0.9963 | pathogenic | -2.596 | Highly Destabilizing | 0.999 | D | 0.867 | deleterious | D | 0.747305069 | None | None | N |
| F/T | 0.9958 | likely_pathogenic | 0.9965 | pathogenic | -2.387 | Highly Destabilizing | 0.999 | D | 0.867 | deleterious | None | None | None | None | N |
| F/V | 0.8678 | likely_pathogenic | 0.8873 | pathogenic | -2.147 | Highly Destabilizing | 0.999 | D | 0.786 | deleterious | D | 0.570333519 | None | None | N |
| F/W | 0.9386 | likely_pathogenic | 0.9387 | pathogenic | -0.698 | Destabilizing | 1.0 | D | 0.796 | deleterious | None | None | None | None | N |
| F/Y | 0.7327 | likely_pathogenic | 0.7472 | pathogenic | -0.997 | Destabilizing | 0.997 | D | 0.633 | neutral | D | 0.747376821 | 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.