Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20803 | 62632;62633;62634 | chr2:178589318;178589317;178589316 | chr2:179454045;179454044;179454043 |
| N2AB | 19162 | 57709;57710;57711 | chr2:178589318;178589317;178589316 | chr2:179454045;179454044;179454043 |
| N2A | 18235 | 54928;54929;54930 | chr2:178589318;178589317;178589316 | chr2:179454045;179454044;179454043 |
| N2B | 11738 | 35437;35438;35439 | chr2:178589318;178589317;178589316 | chr2:179454045;179454044;179454043 |
| Novex-1 | 11863 | 35812;35813;35814 | chr2:178589318;178589317;178589316 | chr2:179454045;179454044;179454043 |
| Novex-2 | 11930 | 36013;36014;36015 | chr2:178589318;178589317;178589316 | chr2:179454045;179454044;179454043 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/G | None | None | 1.0 | D | 0.791 | 0.895 | 0.893705206797 | gnomAD-4.0.0 | 6.84568E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.9987E-07 | 0 | 0 |
| W/R | rs376460156  |
-2.108 | 1.0 | D | 0.865 | 0.897 | 0.943242432309 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.89E-06 | 0 |
| W/R | rs376460156 |
-2.108 | 1.0 | D | 0.865 | 0.897 | 0.943242432309 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| W/R | rs376460156 |
-2.108 | 1.0 | D | 0.865 | 0.897 | 0.943242432309 | gnomAD-4.0.0 | 1.86004E-05 | None | None | None | None | N | None | 1.33536E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 2.37439E-05 | 0 | 1.60195E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/A | 0.9981 | likely_pathogenic | 0.9986 | pathogenic | -2.741 | Highly Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| W/C | 0.9991 | likely_pathogenic | 0.9993 | pathogenic | -1.913 | Destabilizing | 1.0 | D | 0.787 | deleterious | D | 0.708637404 | None | None | N |
| W/D | 0.9998 | likely_pathogenic | 0.9999 | pathogenic | -2.58 | Highly Destabilizing | 1.0 | D | 0.866 | deleterious | None | None | None | None | N |
| W/E | 0.9997 | likely_pathogenic | 0.9998 | pathogenic | -2.436 | Highly Destabilizing | 1.0 | D | 0.84 | deleterious | None | None | None | None | N |
| W/F | 0.6335 | likely_pathogenic | 0.6359 | pathogenic | -1.567 | Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| W/G | 0.9947 | likely_pathogenic | 0.9956 | pathogenic | -3.009 | Highly Destabilizing | 1.0 | D | 0.791 | deleterious | D | 0.708435599 | None | None | N |
| W/H | 0.9986 | likely_pathogenic | 0.9987 | pathogenic | -2.038 | Highly Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | N |
| W/I | 0.9807 | likely_pathogenic | 0.9873 | pathogenic | -1.746 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| W/K | 0.9998 | likely_pathogenic | 0.9999 | pathogenic | -2.408 | Highly Destabilizing | 1.0 | D | 0.838 | deleterious | None | None | None | None | N |
| W/L | 0.9705 | likely_pathogenic | 0.9756 | pathogenic | -1.746 | Destabilizing | 1.0 | D | 0.791 | deleterious | D | 0.676164713 | None | None | N |
| W/M | 0.9943 | likely_pathogenic | 0.9956 | pathogenic | -1.481 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | N |
| W/N | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -3.094 | Highly Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | N |
| W/P | 0.9995 | likely_pathogenic | 0.9996 | pathogenic | -2.105 | Highly Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | N |
| W/Q | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -2.814 | Highly Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| W/R | 0.9996 | likely_pathogenic | 0.9997 | pathogenic | -2.332 | Highly Destabilizing | 1.0 | D | 0.865 | deleterious | D | 0.708637404 | None | None | N |
| W/S | 0.9985 | likely_pathogenic | 0.9988 | pathogenic | -3.366 | Highly Destabilizing | 1.0 | D | 0.841 | deleterious | D | 0.708637404 | None | None | N |
| W/T | 0.9987 | likely_pathogenic | 0.9991 | pathogenic | -3.153 | Highly Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | N |
| W/V | 0.9863 | likely_pathogenic | 0.9905 | pathogenic | -2.105 | Highly Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| W/Y | 0.9523 | likely_pathogenic | 0.9529 | pathogenic | -1.415 | Destabilizing | 1.0 | D | 0.799 | 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.