Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 19157 | 57694;57695;57696 | chr2:178597613;178597612;178597611 | chr2:179462340;179462339;179462338 |
| N2AB | 17516 | 52771;52772;52773 | chr2:178597613;178597612;178597611 | chr2:179462340;179462339;179462338 |
| N2A | 16589 | 49990;49991;49992 | chr2:178597613;178597612;178597611 | chr2:179462340;179462339;179462338 |
| N2B | 10092 | 30499;30500;30501 | chr2:178597613;178597612;178597611 | chr2:179462340;179462339;179462338 |
| Novex-1 | 10217 | 30874;30875;30876 | chr2:178597613;178597612;178597611 | chr2:179462340;179462339;179462338 |
| Novex-2 | 10284 | 31075;31076;31077 | chr2:178597613;178597612;178597611 | chr2:179462340;179462339;179462338 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| H/N | None | None | 0.999 | N | 0.683 | 0.393 | 0.345405024496 | 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 |
| H/P | None | None | 1.0 | N | 0.861 | 0.615 | 0.651368938621 | gnomAD-4.0.0 | 1.59263E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.7852E-05 | None | 0 | 0 | 0 | 0 | 0 |
| H/Q | None | None | 1.0 | N | 0.808 | 0.34 | 0.252162846088 | gnomAD-4.0.0 | 6.84461E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99656E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| H/A | 0.8861 | likely_pathogenic | 0.8997 | pathogenic | -1.711 | Destabilizing | 0.999 | D | 0.807 | deleterious | None | None | None | None | N |
| H/C | 0.6406 | likely_pathogenic | 0.6614 | pathogenic | -0.748 | Destabilizing | 1.0 | D | 0.864 | deleterious | None | None | None | None | N |
| H/D | 0.3136 | likely_benign | 0.3738 | ambiguous | -1.674 | Destabilizing | 1.0 | D | 0.808 | deleterious | N | 0.377803618 | None | None | N |
| H/E | 0.8296 | likely_pathogenic | 0.8618 | pathogenic | -1.494 | Destabilizing | 0.999 | D | 0.676 | prob.neutral | None | None | None | None | N |
| H/F | 0.8118 | likely_pathogenic | 0.8083 | pathogenic | 0.177 | Stabilizing | 1.0 | D | 0.826 | deleterious | None | None | None | None | N |
| H/G | 0.9329 | likely_pathogenic | 0.9441 | pathogenic | -2.151 | Highly Destabilizing | 0.999 | D | 0.82 | deleterious | None | None | None | None | N |
| H/I | 0.9418 | likely_pathogenic | 0.9429 | pathogenic | -0.418 | Destabilizing | 1.0 | D | 0.86 | deleterious | None | None | None | None | N |
| H/K | 0.9453 | likely_pathogenic | 0.9575 | pathogenic | -1.197 | Destabilizing | 1.0 | D | 0.806 | deleterious | None | None | None | None | N |
| H/L | 0.7234 | likely_pathogenic | 0.7395 | pathogenic | -0.418 | Destabilizing | 1.0 | D | 0.858 | deleterious | N | 0.506759553 | None | None | N |
| H/M | 0.8382 | likely_pathogenic | 0.8475 | pathogenic | -0.551 | Destabilizing | 1.0 | D | 0.852 | deleterious | None | None | None | None | N |
| H/N | 0.291 | likely_benign | 0.28 | benign | -1.709 | Destabilizing | 0.999 | D | 0.683 | prob.neutral | N | 0.518991382 | None | None | N |
| H/P | 0.9255 | likely_pathogenic | 0.9439 | pathogenic | -0.838 | Destabilizing | 1.0 | D | 0.861 | deleterious | N | 0.506506063 | None | None | N |
| H/Q | 0.534 | ambiguous | 0.5937 | pathogenic | -1.329 | Destabilizing | 1.0 | D | 0.808 | deleterious | N | 0.504774078 | None | None | N |
| H/R | 0.9206 | likely_pathogenic | 0.9404 | pathogenic | -1.696 | Destabilizing | 1.0 | D | 0.807 | deleterious | D | 0.524053272 | None | None | N |
| H/S | 0.651 | likely_pathogenic | 0.6823 | pathogenic | -1.732 | Destabilizing | 1.0 | D | 0.794 | deleterious | None | None | None | None | N |
| H/T | 0.893 | likely_pathogenic | 0.8986 | pathogenic | -1.429 | Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| H/V | 0.9206 | likely_pathogenic | 0.9235 | pathogenic | -0.838 | Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| H/W | 0.8933 | likely_pathogenic | 0.903 | pathogenic | 0.711 | Stabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| H/Y | 0.5187 | ambiguous | 0.5225 | ambiguous | 0.503 | Stabilizing | 0.999 | D | 0.687 | prob.neutral | N | 0.506506063 | 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.