Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28256 | 84991;84992;84993 | chr2:178561366;178561365;178561364 | chr2:179426093;179426092;179426091 |
| N2AB | 26615 | 80068;80069;80070 | chr2:178561366;178561365;178561364 | chr2:179426093;179426092;179426091 |
| N2A | 25688 | 77287;77288;77289 | chr2:178561366;178561365;178561364 | chr2:179426093;179426092;179426091 |
| N2B | 19191 | 57796;57797;57798 | chr2:178561366;178561365;178561364 | chr2:179426093;179426092;179426091 |
| Novex-1 | 19316 | 58171;58172;58173 | chr2:178561366;178561365;178561364 | chr2:179426093;179426092;179426091 |
| Novex-2 | 19383 | 58372;58373;58374 | chr2:178561366;178561365;178561364 | chr2:179426093;179426092;179426091 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | None | None | 1.0 | D | 0.808 | 0.805 | 0.646441920909 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.75482E-04 | None | 0 | 0 | 0 | 0 | 0 |
| P/S | None | None | 1.0 | D | 0.859 | 0.812 | 0.66862927664 | gnomAD-4.0.0 | 3.60097E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.9375E-06 | 0 | 0 |
| P/T | None | None | 1.0 | D | 0.848 | 0.801 | 0.826831894253 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.8141 | likely_pathogenic | 0.8717 | pathogenic | -2.204 | Highly Destabilizing | 1.0 | D | 0.808 | deleterious | D | 0.611603398 | None | None | N |
| P/C | 0.9881 | likely_pathogenic | 0.9924 | pathogenic | -2.362 | Highly Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | N |
| P/D | 0.9992 | likely_pathogenic | 0.9995 | pathogenic | -3.359 | Highly Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| P/E | 0.9981 | likely_pathogenic | 0.9986 | pathogenic | -3.164 | Highly Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| P/F | 0.9994 | likely_pathogenic | 0.9996 | pathogenic | -1.315 | Destabilizing | 1.0 | D | 0.903 | deleterious | None | None | None | None | N |
| P/G | 0.9935 | likely_pathogenic | 0.9956 | pathogenic | -2.69 | Highly Destabilizing | 1.0 | D | 0.891 | deleterious | None | None | None | None | N |
| P/H | 0.998 | likely_pathogenic | 0.9985 | pathogenic | -2.323 | Highly Destabilizing | 1.0 | D | 0.867 | deleterious | D | 0.667928327 | None | None | N |
| P/I | 0.9838 | likely_pathogenic | 0.9881 | pathogenic | -0.85 | Destabilizing | 1.0 | D | 0.904 | deleterious | None | None | None | None | N |
| P/K | 0.9988 | likely_pathogenic | 0.9991 | pathogenic | -1.858 | Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| P/L | 0.9499 | likely_pathogenic | 0.964 | pathogenic | -0.85 | Destabilizing | 1.0 | D | 0.893 | deleterious | D | 0.651273193 | None | None | N |
| P/M | 0.9942 | likely_pathogenic | 0.9964 | pathogenic | -1.269 | Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| P/N | 0.9993 | likely_pathogenic | 0.9995 | pathogenic | -2.28 | Highly Destabilizing | 1.0 | D | 0.908 | deleterious | None | None | None | None | N |
| P/Q | 0.9969 | likely_pathogenic | 0.9978 | pathogenic | -2.182 | Highly Destabilizing | 1.0 | D | 0.872 | deleterious | None | None | None | None | N |
| P/R | 0.9954 | likely_pathogenic | 0.9964 | pathogenic | -1.624 | Destabilizing | 1.0 | D | 0.909 | deleterious | D | 0.667726523 | None | None | N |
| P/S | 0.9842 | likely_pathogenic | 0.9894 | pathogenic | -2.808 | Highly Destabilizing | 1.0 | D | 0.859 | deleterious | D | 0.641986607 | None | None | N |
| P/T | 0.9749 | likely_pathogenic | 0.9834 | pathogenic | -2.479 | Highly Destabilizing | 1.0 | D | 0.848 | deleterious | D | 0.667726523 | None | None | N |
| P/V | 0.949 | likely_pathogenic | 0.9626 | pathogenic | -1.277 | Destabilizing | 1.0 | D | 0.887 | deleterious | None | None | None | None | N |
| P/W | 0.9998 | likely_pathogenic | 0.9999 | pathogenic | -1.79 | Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | N |
| P/Y | 0.9995 | likely_pathogenic | 0.9997 | pathogenic | -1.474 | Destabilizing | 1.0 | D | 0.908 | 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.