Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 17560 | 52903;52904;52905 | chr2:178608205;178608204;178608203 | chr2:179472932;179472931;179472930 |
| N2AB | 15919 | 47980;47981;47982 | chr2:178608205;178608204;178608203 | chr2:179472932;179472931;179472930 |
| N2A | 14992 | 45199;45200;45201 | chr2:178608205;178608204;178608203 | chr2:179472932;179472931;179472930 |
| N2B | 8495 | 25708;25709;25710 | chr2:178608205;178608204;178608203 | chr2:179472932;179472931;179472930 |
| Novex-1 | 8620 | 26083;26084;26085 | chr2:178608205;178608204;178608203 | chr2:179472932;179472931;179472930 |
| Novex-2 | 8687 | 26284;26285;26286 | chr2:178608205;178608204;178608203 | chr2:179472932;179472931;179472930 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/G | None | None | 0.991 | N | 0.771 | 0.412 | 0.303781844768 | gnomAD-4.0.0 | 1.61662E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.07163E-05 |
| D/H | None | None | 1.0 | N | 0.853 | 0.411 | 0.355658859761 | gnomAD-4.0.0 | 6.88993E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.54699E-05 | None | 0 | 0 | 0 | 0 | 0 |
| D/V | rs954068043  |
None | 0.998 | N | 0.871 | 0.401 | 0.435699915968 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 0 | 1.31096E-04 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| D/V | rs954068043 |
None | 0.998 | N | 0.871 | 0.401 | 0.435699915968 | gnomAD-4.0.0 | 5.19085E-06 | None | None | None | None | N | None | 0 | 6.90369E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.2025 | likely_benign | 0.195 | benign | -0.276 | Destabilizing | 0.982 | D | 0.795 | deleterious | N | 0.487075672 | None | None | N |
| D/C | 0.7389 | likely_pathogenic | 0.673 | pathogenic | -0.086 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| D/E | 0.132 | likely_benign | 0.1253 | benign | -0.296 | Destabilizing | 0.429 | N | 0.257 | neutral | N | 0.401976918 | None | None | N |
| D/F | 0.6142 | likely_pathogenic | 0.542 | ambiguous | -0.155 | Destabilizing | 1.0 | D | 0.901 | deleterious | None | None | None | None | N |
| D/G | 0.3301 | likely_benign | 0.2972 | benign | -0.477 | Destabilizing | 0.991 | D | 0.771 | deleterious | N | 0.511107325 | None | None | N |
| D/H | 0.4119 | ambiguous | 0.3659 | ambiguous | 0.049 | Stabilizing | 1.0 | D | 0.853 | deleterious | N | 0.486035864 | None | None | N |
| D/I | 0.3079 | likely_benign | 0.2786 | benign | 0.204 | Stabilizing | 0.999 | D | 0.892 | deleterious | None | None | None | None | N |
| D/K | 0.4378 | ambiguous | 0.398 | ambiguous | 0.209 | Stabilizing | 0.996 | D | 0.806 | deleterious | None | None | None | None | N |
| D/L | 0.337 | likely_benign | 0.3175 | benign | 0.204 | Stabilizing | 0.998 | D | 0.863 | deleterious | None | None | None | None | N |
| D/M | 0.5805 | likely_pathogenic | 0.5146 | ambiguous | 0.257 | Stabilizing | 1.0 | D | 0.892 | deleterious | None | None | None | None | N |
| D/N | 0.1487 | likely_benign | 0.1345 | benign | -0.094 | Destabilizing | 0.998 | D | 0.776 | deleterious | N | 0.490019977 | None | None | N |
| D/P | 0.5002 | ambiguous | 0.4653 | ambiguous | 0.066 | Stabilizing | 0.999 | D | 0.881 | deleterious | None | None | None | None | N |
| D/Q | 0.3777 | ambiguous | 0.3475 | ambiguous | -0.052 | Destabilizing | 0.996 | D | 0.828 | deleterious | None | None | None | None | N |
| D/R | 0.559 | ambiguous | 0.5061 | ambiguous | 0.427 | Stabilizing | 0.996 | D | 0.867 | deleterious | None | None | None | None | N |
| D/S | 0.172 | likely_benign | 0.1585 | benign | -0.208 | Destabilizing | 0.987 | D | 0.669 | prob.neutral | None | None | None | None | N |
| D/T | 0.3012 | likely_benign | 0.2728 | benign | -0.052 | Destabilizing | 0.998 | D | 0.821 | deleterious | None | None | None | None | N |
| D/V | 0.1969 | likely_benign | 0.1825 | benign | 0.066 | Stabilizing | 0.998 | D | 0.871 | deleterious | N | 0.511605971 | None | None | N |
| D/W | 0.9202 | likely_pathogenic | 0.8876 | pathogenic | -0.016 | Destabilizing | 1.0 | D | 0.842 | deleterious | None | None | None | None | N |
| D/Y | 0.3166 | likely_benign | 0.2694 | benign | 0.078 | Stabilizing | 1.0 | D | 0.902 | deleterious | N | 0.47869203 | 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.