Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 14783 | 44572;44573;44574 | chr2:178629378;178629377;178629376 | chr2:179494105;179494104;179494103 |
| N2AB | 13142 | 39649;39650;39651 | chr2:178629378;178629377;178629376 | chr2:179494105;179494104;179494103 |
| N2A | 12215 | 36868;36869;36870 | chr2:178629378;178629377;178629376 | chr2:179494105;179494104;179494103 |
| N2B | 5718 | 17377;17378;17379 | chr2:178629378;178629377;178629376 | chr2:179494105;179494104;179494103 |
| Novex-1 | 5843 | 17752;17753;17754 | chr2:178629378;178629377;178629376 | chr2:179494105;179494104;179494103 |
| Novex-2 | 5910 | 17953;17954;17955 | chr2:178629378;178629377;178629376 | chr2:179494105;179494104;179494103 |
| 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/L | None | None | 0.999 | N | 0.67 | 0.602 | 0.253726318573 | gnomAD-4.0.0 | 6.84556E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.998E-07 | 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 | 0.9915 | likely_pathogenic | 0.9931 | pathogenic | -2.479 | Highly Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | N |
| F/C | 0.9746 | likely_pathogenic | 0.9832 | pathogenic | -1.577 | Destabilizing | 1.0 | D | 0.819 | deleterious | D | 0.768817033 | None | None | N |
| F/D | 0.9995 | likely_pathogenic | 0.9996 | pathogenic | -2.984 | Highly Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | N |
| F/E | 0.9994 | likely_pathogenic | 0.9995 | pathogenic | -2.742 | Highly Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | N |
| F/G | 0.9976 | likely_pathogenic | 0.9977 | pathogenic | -2.96 | Highly Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | N |
| F/H | 0.9957 | likely_pathogenic | 0.9964 | pathogenic | -1.755 | Destabilizing | 1.0 | D | 0.812 | deleterious | None | None | None | None | N |
| F/I | 0.8667 | likely_pathogenic | 0.9087 | pathogenic | -0.909 | Destabilizing | 1.0 | D | 0.782 | deleterious | D | 0.654052369 | None | None | N |
| F/K | 0.9992 | likely_pathogenic | 0.9994 | pathogenic | -1.853 | Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | N |
| F/L | 0.9811 | likely_pathogenic | 0.9845 | pathogenic | -0.909 | Destabilizing | 0.999 | D | 0.67 | neutral | N | 0.504449125 | None | None | N |
| F/M | 0.9199 | likely_pathogenic | 0.9354 | pathogenic | -0.75 | Destabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | N |
| F/N | 0.9985 | likely_pathogenic | 0.9988 | pathogenic | -2.443 | Highly Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | N |
| F/P | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -1.445 | Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | N |
| F/Q | 0.9989 | likely_pathogenic | 0.999 | pathogenic | -2.274 | Highly Destabilizing | 1.0 | D | 0.876 | deleterious | None | None | None | None | N |
| F/R | 0.9976 | likely_pathogenic | 0.9979 | pathogenic | -1.642 | Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | N |
| F/S | 0.9947 | likely_pathogenic | 0.9959 | pathogenic | -3.046 | Highly Destabilizing | 1.0 | D | 0.859 | deleterious | D | 0.768817033 | None | None | N |
| F/T | 0.9937 | likely_pathogenic | 0.9956 | pathogenic | -2.677 | Highly Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| F/V | 0.8528 | likely_pathogenic | 0.8991 | pathogenic | -1.445 | Destabilizing | 1.0 | D | 0.761 | deleterious | D | 0.677496963 | None | None | N |
| F/W | 0.9384 | likely_pathogenic | 0.9484 | pathogenic | -0.067 | Destabilizing | 1.0 | D | 0.76 | deleterious | None | None | None | None | N |
| F/Y | 0.7971 | likely_pathogenic | 0.8281 | pathogenic | -0.465 | Destabilizing | 0.999 | D | 0.599 | neutral | D | 0.768763544 | 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.