Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 1358 | 4297;4298;4299 | chr2:178779010;178779009;178779008 | chr2:179643737;179643736;179643735 |
| N2AB | 1358 | 4297;4298;4299 | chr2:178779010;178779009;178779008 | chr2:179643737;179643736;179643735 |
| N2A | 1358 | 4297;4298;4299 | chr2:178779010;178779009;178779008 | chr2:179643737;179643736;179643735 |
| N2B | 1312 | 4159;4160;4161 | chr2:178779010;178779009;178779008 | chr2:179643737;179643736;179643735 |
| Novex-1 | 1312 | 4159;4160;4161 | chr2:178779010;178779009;178779008 | chr2:179643737;179643736;179643735 |
| Novex-2 | 1312 | 4159;4160;4161 | chr2:178779010;178779009;178779008 | chr2:179643737;179643736;179643735 |
| Novex-3 | 1358 | 4297;4298;4299 | chr2:178779010;178779009;178779008 | chr2:179643737;179643736;179643735 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/Y | rs373988162  |
1.829 | 0.999 | D | 0.858 | 0.813 | None | gnomAD-2.1.1 | 3.99E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.84E-06 | 0 |
| D/Y | rs373988162 |
1.829 | 0.999 | D | 0.858 | 0.813 | None | gnomAD-3.1.2 | 1.98E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 4.43E-05 | 0 | 0 |
| D/Y | rs373988162 |
1.829 | 0.999 | D | 0.858 | 0.813 | None | gnomAD-4.0.0 | 1.61177E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.0344E-05 | 0 | 3.20164E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.9952 | likely_pathogenic | 0.9972 | pathogenic | 1.596 | Stabilizing | 0.999 | D | 0.849 | deleterious | D | 0.75836324 | None | None | N |
| D/C | 0.9989 | likely_pathogenic | 0.9992 | pathogenic | 1.074 | Stabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| D/E | 0.9715 | likely_pathogenic | 0.9791 | pathogenic | -0.55 | Destabilizing | 0.996 | D | 0.627 | neutral | D | 0.652524506 | None | None | N |
| D/F | 0.9988 | likely_pathogenic | 0.9992 | pathogenic | 2.088 | Highly Stabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | N |
| D/G | 0.9947 | likely_pathogenic | 0.9968 | pathogenic | 1.106 | Stabilizing | 0.998 | D | 0.766 | deleterious | D | 0.812011258 | None | None | N |
| D/H | 0.9935 | likely_pathogenic | 0.9946 | pathogenic | 1.635 | Stabilizing | 0.803 | D | 0.58 | neutral | D | 0.644357207 | None | None | N |
| D/I | 0.9991 | likely_pathogenic | 0.9995 | pathogenic | 2.898 | Highly Stabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | N |
| D/K | 0.9988 | likely_pathogenic | 0.9991 | pathogenic | 0.881 | Stabilizing | 1.0 | D | 0.826 | deleterious | None | None | None | None | N |
| D/L | 0.998 | likely_pathogenic | 0.9988 | pathogenic | 2.898 | Highly Stabilizing | 1.0 | D | 0.874 | deleterious | None | None | None | None | N |
| D/M | 0.9989 | likely_pathogenic | 0.9993 | pathogenic | 3.067 | Highly Stabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| D/N | 0.9772 | likely_pathogenic | 0.9832 | pathogenic | -0.033 | Destabilizing | 0.996 | D | 0.723 | prob.delet. | D | 0.691298327 | None | None | N |
| D/P | 0.9999 | likely_pathogenic | 1.0 | pathogenic | 2.499 | Highly Stabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| D/Q | 0.9982 | likely_pathogenic | 0.9986 | pathogenic | 0.417 | Stabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | N |
| D/R | 0.9992 | likely_pathogenic | 0.9995 | pathogenic | 0.617 | Stabilizing | 1.0 | D | 0.868 | deleterious | None | None | None | None | N |
| D/S | 0.9943 | likely_pathogenic | 0.9961 | pathogenic | -0.237 | Destabilizing | 0.998 | D | 0.717 | prob.delet. | None | None | None | None | N |
| D/T | 0.9983 | likely_pathogenic | 0.9989 | pathogenic | 0.227 | Stabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | N |
| D/V | 0.9967 | likely_pathogenic | 0.9982 | pathogenic | 2.499 | Highly Stabilizing | 1.0 | D | 0.875 | deleterious | D | 0.778389536 | None | None | N |
| D/W | 0.9997 | likely_pathogenic | 0.9998 | pathogenic | 1.786 | Stabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| D/Y | 0.9909 | likely_pathogenic | 0.9939 | pathogenic | 2.315 | Highly Stabilizing | 0.999 | D | 0.858 | deleterious | D | 0.757684442 | 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.