Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32153 | 96682;96683;96684 | chr2:178543516;178543515;178543514 | chr2:179408243;179408242;179408241 |
| N2AB | 30512 | 91759;91760;91761 | chr2:178543516;178543515;178543514 | chr2:179408243;179408242;179408241 |
| N2A | 29585 | 88978;88979;88980 | chr2:178543516;178543515;178543514 | chr2:179408243;179408242;179408241 |
| N2B | 23088 | 69487;69488;69489 | chr2:178543516;178543515;178543514 | chr2:179408243;179408242;179408241 |
| Novex-1 | 23213 | 69862;69863;69864 | chr2:178543516;178543515;178543514 | chr2:179408243;179408242;179408241 |
| Novex-2 | 23280 | 70063;70064;70065 | chr2:178543516;178543515;178543514 | chr2:179408243;179408242;179408241 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/Q | rs761414958  |
-0.02 | 1.0 | N | 0.711 | 0.408 | 0.248417906384 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| K/Q | rs761414958 |
-0.02 | 1.0 | N | 0.711 | 0.408 | 0.248417906384 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 4.13565E-04 | 0 |
| K/Q | rs761414958 |
-0.02 | 1.0 | N | 0.711 | 0.408 | 0.248417906384 | gnomAD-4.0.0 | 6.19788E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.4764E-07 | 9.88121E-05 | 0 |
| K/T | None | None | 1.0 | N | 0.713 | 0.512 | 0.329540904979 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 1.92604E-04 | None | 0 | 0 | 0 | 0 | 0 |
| K/T | None | None | 1.0 | N | 0.713 | 0.512 | 0.329540904979 | gnomAD-4.0.0 | 6.5697E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 1.92604E-04 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/A | 0.7106 | likely_pathogenic | 0.689 | pathogenic | -0.324 | Destabilizing | 0.999 | D | 0.691 | prob.neutral | None | None | None | None | I |
| K/C | 0.8359 | likely_pathogenic | 0.8288 | pathogenic | -0.317 | Destabilizing | 1.0 | D | 0.743 | deleterious | None | None | None | None | I |
| K/D | 0.9211 | likely_pathogenic | 0.9124 | pathogenic | -0.001 | Destabilizing | 1.0 | D | 0.731 | prob.delet. | None | None | None | None | I |
| K/E | 0.5558 | ambiguous | 0.5277 | ambiguous | 0.09 | Stabilizing | 0.999 | D | 0.658 | neutral | N | 0.486774602 | None | None | I |
| K/F | 0.9666 | likely_pathogenic | 0.9565 | pathogenic | -0.026 | Destabilizing | 1.0 | D | 0.72 | prob.delet. | None | None | None | None | I |
| K/G | 0.8288 | likely_pathogenic | 0.8126 | pathogenic | -0.655 | Destabilizing | 1.0 | D | 0.674 | neutral | None | None | None | None | I |
| K/H | 0.4673 | ambiguous | 0.4527 | ambiguous | -0.876 | Destabilizing | 1.0 | D | 0.703 | prob.neutral | None | None | None | None | I |
| K/I | 0.7599 | likely_pathogenic | 0.7382 | pathogenic | 0.516 | Stabilizing | 1.0 | D | 0.735 | prob.delet. | N | 0.506629799 | None | None | I |
| K/L | 0.7338 | likely_pathogenic | 0.7071 | pathogenic | 0.516 | Stabilizing | 1.0 | D | 0.674 | neutral | None | None | None | None | I |
| K/M | 0.6074 | likely_pathogenic | 0.5759 | pathogenic | 0.198 | Stabilizing | 1.0 | D | 0.695 | prob.neutral | None | None | None | None | I |
| K/N | 0.8181 | likely_pathogenic | 0.7992 | pathogenic | -0.165 | Destabilizing | 1.0 | D | 0.729 | prob.delet. | N | 0.500029114 | None | None | I |
| K/P | 0.9786 | likely_pathogenic | 0.9715 | pathogenic | 0.266 | Stabilizing | 1.0 | D | 0.719 | prob.delet. | None | None | None | None | I |
| K/Q | 0.2065 | likely_benign | 0.2059 | benign | -0.209 | Destabilizing | 1.0 | D | 0.711 | prob.delet. | N | 0.460260004 | None | None | I |
| K/R | 0.0915 | likely_benign | 0.0889 | benign | -0.408 | Destabilizing | 0.999 | D | 0.607 | neutral | N | 0.468842202 | None | None | I |
| K/S | 0.715 | likely_pathogenic | 0.7012 | pathogenic | -0.717 | Destabilizing | 0.999 | D | 0.697 | prob.neutral | None | None | None | None | I |
| K/T | 0.3937 | ambiguous | 0.386 | ambiguous | -0.437 | Destabilizing | 1.0 | D | 0.713 | prob.delet. | N | 0.438674011 | None | None | I |
| K/V | 0.6494 | likely_pathogenic | 0.6351 | pathogenic | 0.266 | Stabilizing | 1.0 | D | 0.704 | prob.neutral | None | None | None | None | I |
| K/W | 0.9451 | likely_pathogenic | 0.9296 | pathogenic | 0.031 | Stabilizing | 1.0 | D | 0.753 | deleterious | None | None | None | None | I |
| K/Y | 0.904 | likely_pathogenic | 0.8839 | pathogenic | 0.3 | Stabilizing | 1.0 | D | 0.698 | prob.neutral | None | None | None | None | I |
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.