Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 14961 | 45106;45107;45108 | chr2:178622702;178622701;178622700 | chr2:179487429;179487428;179487427 |
| N2AB | 13320 | 40183;40184;40185 | chr2:178622702;178622701;178622700 | chr2:179487429;179487428;179487427 |
| N2A | 12393 | 37402;37403;37404 | chr2:178622702;178622701;178622700 | chr2:179487429;179487428;179487427 |
| N2B | 5896 | 17911;17912;17913 | chr2:178622702;178622701;178622700 | chr2:179487429;179487428;179487427 |
| Novex-1 | 6021 | 18286;18287;18288 | chr2:178622702;178622701;178622700 | chr2:179487429;179487428;179487427 |
| Novex-2 | 6088 | 18487;18488;18489 | chr2:178622702;178622701;178622700 | chr2:179487429;179487428;179487427 |
| 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 | 0.046 | N | 0.319 | 0.238 | 0.231231049324 | gnomAD-4.0.0 | 3.21237E-06 | None | None | None | None | N | None | 0 | 0 | None | 4.82486E-05 | 0 | None | 0 | 0 | 0 | 0 | 3.0525E-05 |
| F/S | rs794729433  |
None | 0.991 | D | 0.851 | 0.863 | 0.889355318692 | gnomAD-4.0.0 | 2.74784E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.60659E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/A | 0.9929 | likely_pathogenic | 0.9929 | pathogenic | -1.642 | Destabilizing | 0.953 | D | 0.786 | deleterious | None | None | None | None | N |
| F/C | 0.9828 | likely_pathogenic | 0.9857 | pathogenic | -0.539 | Destabilizing | 0.999 | D | 0.837 | deleterious | D | 0.762892864 | None | None | N |
| F/D | 0.9994 | likely_pathogenic | 0.9992 | pathogenic | -2.567 | Highly Destabilizing | 0.998 | D | 0.873 | deleterious | None | None | None | None | N |
| F/E | 0.9987 | likely_pathogenic | 0.9986 | pathogenic | -2.308 | Highly Destabilizing | 0.998 | D | 0.876 | deleterious | None | None | None | None | N |
| F/G | 0.9964 | likely_pathogenic | 0.9963 | pathogenic | -2.11 | Highly Destabilizing | 0.998 | D | 0.868 | deleterious | None | None | None | None | N |
| F/H | 0.9946 | likely_pathogenic | 0.994 | pathogenic | -1.599 | Destabilizing | 0.999 | D | 0.738 | prob.delet. | None | None | None | None | N |
| F/I | 0.866 | likely_pathogenic | 0.8967 | pathogenic | -0.118 | Destabilizing | 0.885 | D | 0.631 | neutral | D | 0.61313004 | None | None | N |
| F/K | 0.9985 | likely_pathogenic | 0.9982 | pathogenic | -1.317 | Destabilizing | 0.993 | D | 0.874 | deleterious | None | None | None | None | N |
| F/L | 0.965 | likely_pathogenic | 0.9736 | pathogenic | -0.118 | Destabilizing | 0.046 | N | 0.319 | neutral | N | 0.466399964 | None | None | N |
| F/M | 0.9042 | likely_pathogenic | 0.9142 | pathogenic | 0.053 | Stabilizing | 0.986 | D | 0.691 | prob.neutral | None | None | None | None | N |
| F/N | 0.9979 | likely_pathogenic | 0.9978 | pathogenic | -2.067 | Highly Destabilizing | 0.998 | D | 0.874 | deleterious | None | None | None | None | N |
| F/P | 0.9999 | likely_pathogenic | 0.9998 | pathogenic | -0.639 | Destabilizing | 0.998 | D | 0.877 | deleterious | None | None | None | None | N |
| F/Q | 0.9977 | likely_pathogenic | 0.9973 | pathogenic | -1.712 | Destabilizing | 0.998 | D | 0.877 | deleterious | None | None | None | None | N |
| F/R | 0.9967 | likely_pathogenic | 0.996 | pathogenic | -1.607 | Destabilizing | 0.993 | D | 0.869 | deleterious | None | None | None | None | N |
| F/S | 0.9968 | likely_pathogenic | 0.9965 | pathogenic | -2.404 | Highly Destabilizing | 0.991 | D | 0.851 | deleterious | D | 0.762892864 | None | None | N |
| F/T | 0.9961 | likely_pathogenic | 0.996 | pathogenic | -2.01 | Highly Destabilizing | 0.993 | D | 0.838 | deleterious | None | None | None | None | N |
| F/V | 0.9227 | likely_pathogenic | 0.9349 | pathogenic | -0.639 | Destabilizing | 0.885 | D | 0.676 | prob.neutral | D | 0.687712375 | None | None | N |
| F/W | 0.9228 | likely_pathogenic | 0.9111 | pathogenic | 0.236 | Stabilizing | 0.999 | D | 0.667 | neutral | None | None | None | None | N |
| F/Y | 0.7296 | likely_pathogenic | 0.7303 | pathogenic | -0.087 | Destabilizing | 0.969 | D | 0.58 | neutral | D | 0.726032569 | 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.