Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 34385 | 103378;103379;103380 | chr2:178533462;178533461;178533460 | chr2:179398189;179398188;179398187 |
| N2AB | 32744 | 98455;98456;98457 | chr2:178533462;178533461;178533460 | chr2:179398189;179398188;179398187 |
| N2A | 31817 | 95674;95675;95676 | chr2:178533462;178533461;178533460 | chr2:179398189;179398188;179398187 |
| N2B | 25320 | 76183;76184;76185 | chr2:178533462;178533461;178533460 | chr2:179398189;179398188;179398187 |
| Novex-1 | 25445 | 76558;76559;76560 | chr2:178533462;178533461;178533460 | chr2:179398189;179398188;179398187 |
| Novex-2 | 25512 | 76759;76760;76761 | chr2:178533462;178533461;178533460 | chr2:179398189;179398188;179398187 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/I | rs1369995123  |
-0.49 | 0.999 | D | 0.726 | 0.514 | 0.73428325888 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.9751 | likely_pathogenic | 0.962 | pathogenic | -1.315 | Destabilizing | 0.992 | D | 0.547 | neutral | None | None | None | None | I |
| R/C | 0.8465 | likely_pathogenic | 0.7718 | pathogenic | -1.289 | Destabilizing | 1.0 | D | 0.681 | prob.neutral | None | None | None | None | I |
| R/D | 0.9953 | likely_pathogenic | 0.992 | pathogenic | -0.324 | Destabilizing | 0.999 | D | 0.701 | prob.neutral | None | None | None | None | I |
| R/E | 0.9605 | likely_pathogenic | 0.9425 | pathogenic | -0.123 | Destabilizing | 0.992 | D | 0.475 | neutral | None | None | None | None | I |
| R/F | 0.9875 | likely_pathogenic | 0.9795 | pathogenic | -0.636 | Destabilizing | 1.0 | D | 0.709 | prob.delet. | None | None | None | None | I |
| R/G | 0.9703 | likely_pathogenic | 0.9513 | pathogenic | -1.693 | Destabilizing | 0.994 | D | 0.655 | neutral | N | 0.506065217 | None | None | I |
| R/H | 0.7228 | likely_pathogenic | 0.6043 | pathogenic | -1.653 | Destabilizing | 1.0 | D | 0.657 | neutral | None | None | None | None | I |
| R/I | 0.9402 | likely_pathogenic | 0.9187 | pathogenic | -0.252 | Destabilizing | 0.999 | D | 0.726 | prob.delet. | D | 0.522477191 | None | None | I |
| R/K | 0.665 | likely_pathogenic | 0.5589 | ambiguous | -1.076 | Destabilizing | 0.543 | D | 0.269 | neutral | N | 0.459809792 | None | None | I |
| R/L | 0.9088 | likely_pathogenic | 0.876 | pathogenic | -0.252 | Destabilizing | 0.996 | D | 0.655 | neutral | None | None | None | None | I |
| R/M | 0.9612 | likely_pathogenic | 0.9399 | pathogenic | -0.756 | Destabilizing | 1.0 | D | 0.71 | prob.delet. | None | None | None | None | I |
| R/N | 0.9912 | likely_pathogenic | 0.9832 | pathogenic | -0.866 | Destabilizing | 0.999 | D | 0.632 | neutral | None | None | None | None | I |
| R/P | 0.9955 | likely_pathogenic | 0.9936 | pathogenic | -0.589 | Destabilizing | 1.0 | D | 0.709 | prob.delet. | None | None | None | None | I |
| R/Q | 0.676 | likely_pathogenic | 0.5631 | ambiguous | -0.821 | Destabilizing | 0.998 | D | 0.621 | neutral | None | None | None | None | I |
| R/S | 0.9836 | likely_pathogenic | 0.9735 | pathogenic | -1.735 | Destabilizing | 0.989 | D | 0.624 | neutral | D | 0.523687912 | None | None | I |
| R/T | 0.9598 | likely_pathogenic | 0.9404 | pathogenic | -1.315 | Destabilizing | 0.998 | D | 0.703 | prob.neutral | N | 0.518722023 | None | None | I |
| R/V | 0.9512 | likely_pathogenic | 0.9343 | pathogenic | -0.589 | Destabilizing | 0.999 | D | 0.709 | prob.delet. | None | None | None | None | I |
| R/W | 0.8686 | likely_pathogenic | 0.8044 | pathogenic | -0.149 | Destabilizing | 1.0 | D | 0.652 | neutral | None | None | None | None | I |
| R/Y | 0.9747 | likely_pathogenic | 0.9585 | pathogenic | 0.032 | Stabilizing | 1.0 | D | 0.713 | prob.delet. | 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.