Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18468 | 55627;55628;55629 | chr2:178601688;178601687;178601686 | chr2:179466415;179466414;179466413 |
| N2AB | 16827 | 50704;50705;50706 | chr2:178601688;178601687;178601686 | chr2:179466415;179466414;179466413 |
| N2A | 15900 | 47923;47924;47925 | chr2:178601688;178601687;178601686 | chr2:179466415;179466414;179466413 |
| N2B | 9403 | 28432;28433;28434 | chr2:178601688;178601687;178601686 | chr2:179466415;179466414;179466413 |
| Novex-1 | 9528 | 28807;28808;28809 | chr2:178601688;178601687;178601686 | chr2:179466415;179466414;179466413 |
| Novex-2 | 9595 | 29008;29009;29010 | chr2:178601688;178601687;178601686 | chr2:179466415;179466414;179466413 |
| 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/N | None | None | 1.0 | N | 0.697 | 0.406 | 0.294206760003 | gnomAD-4.0.0 | 6.87648E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.01122E-07 | 0 | 0 |
| K/R | None | None | 0.999 | N | 0.587 | 0.298 | 0.391470661076 | gnomAD-4.0.0 | 1.60985E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.875E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/A | 0.5114 | ambiguous | 0.5582 | ambiguous | 0.05 | Stabilizing | 0.999 | D | 0.675 | prob.neutral | None | None | None | None | I |
| K/C | 0.7821 | likely_pathogenic | 0.793 | pathogenic | -0.222 | Destabilizing | 1.0 | D | 0.656 | neutral | None | None | None | None | I |
| K/D | 0.8903 | likely_pathogenic | 0.8966 | pathogenic | -0.135 | Destabilizing | 1.0 | D | 0.679 | prob.neutral | None | None | None | None | I |
| K/E | 0.4625 | ambiguous | 0.5411 | ambiguous | -0.149 | Destabilizing | 0.999 | D | 0.653 | neutral | N | 0.483615641 | None | None | I |
| K/F | 0.918 | likely_pathogenic | 0.9285 | pathogenic | -0.246 | Destabilizing | 1.0 | D | 0.597 | neutral | None | None | None | None | I |
| K/G | 0.7476 | likely_pathogenic | 0.7813 | pathogenic | -0.108 | Destabilizing | 1.0 | D | 0.64 | neutral | None | None | None | None | I |
| K/H | 0.5323 | ambiguous | 0.5488 | ambiguous | -0.323 | Destabilizing | 1.0 | D | 0.575 | neutral | None | None | None | None | I |
| K/I | 0.5726 | likely_pathogenic | 0.624 | pathogenic | 0.381 | Stabilizing | 1.0 | D | 0.627 | neutral | None | None | None | None | I |
| K/L | 0.6495 | likely_pathogenic | 0.6967 | pathogenic | 0.381 | Stabilizing | 1.0 | D | 0.64 | neutral | None | None | None | None | I |
| K/M | 0.3845 | ambiguous | 0.4384 | ambiguous | 0.168 | Stabilizing | 1.0 | D | 0.571 | neutral | N | 0.498013821 | None | None | I |
| K/N | 0.7184 | likely_pathogenic | 0.7586 | pathogenic | 0.233 | Stabilizing | 1.0 | D | 0.697 | prob.neutral | N | 0.496746374 | None | None | I |
| K/P | 0.9935 | likely_pathogenic | 0.9949 | pathogenic | 0.296 | Stabilizing | 1.0 | D | 0.648 | neutral | None | None | None | None | I |
| K/Q | 0.2198 | likely_benign | 0.2607 | benign | 0.03 | Stabilizing | 1.0 | D | 0.699 | prob.neutral | N | 0.48437611 | None | None | I |
| K/R | 0.1098 | likely_benign | 0.1126 | benign | 0.009 | Stabilizing | 0.999 | D | 0.587 | neutral | N | 0.511009404 | None | None | I |
| K/S | 0.702 | likely_pathogenic | 0.7422 | pathogenic | -0.191 | Destabilizing | 0.999 | D | 0.68 | prob.neutral | None | None | None | None | I |
| K/T | 0.3613 | ambiguous | 0.4193 | ambiguous | -0.078 | Destabilizing | 1.0 | D | 0.673 | neutral | D | 0.534443624 | None | None | I |
| K/V | 0.4539 | ambiguous | 0.4984 | ambiguous | 0.296 | Stabilizing | 1.0 | D | 0.641 | neutral | None | None | None | None | I |
| K/W | 0.9408 | likely_pathogenic | 0.9456 | pathogenic | -0.292 | Destabilizing | 1.0 | D | 0.661 | neutral | None | None | None | None | I |
| K/Y | 0.842 | likely_pathogenic | 0.8521 | pathogenic | 0.066 | Stabilizing | 1.0 | D | 0.603 | 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.