Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
---|---|---|---|---|
IC | 8217 | 24874;24875;24876 | chr2:178718457;178718456;178718455 | chr2:179583184;179583183;179583182 |
N2AB | 7900 | 23923;23924;23925 | chr2:178718457;178718456;178718455 | chr2:179583184;179583183;179583182 |
N2A | 6973 | 21142;21143;21144 | chr2:178718457;178718456;178718455 | chr2:179583184;179583183;179583182 |
N2B | None | None | chr2:None | chr2:None |
Novex-1 | None | None | chr2:None | chr2:None |
Novex-2 | None | None | chr2:None | chr2:None |
Novex-3 | None | None | chr2:None | chr2:None |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
C/R | None | None | 0.016 | N | 0.485 | 0.382 | 0.719995979321 | gnomAD-4.0.0 | 1.59134E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85842E-06 | 0 | 0 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
C/A | 0.5541 | ambiguous | 0.5523 | ambiguous | -1.507 | Destabilizing | 0.38 | N | 0.387 | neutral | None | None | None | None | N |
C/D | 0.8866 | likely_pathogenic | 0.8935 | pathogenic | -0.133 | Destabilizing | 0.584 | D | 0.603 | neutral | None | None | None | None | N |
C/E | 0.8929 | likely_pathogenic | 0.9021 | pathogenic | -0.032 | Destabilizing | 0.037 | N | 0.483 | neutral | None | None | None | None | N |
C/F | 0.2495 | likely_benign | 0.2638 | benign | -1.037 | Destabilizing | 0.719 | D | 0.673 | neutral | N | 0.482107862 | None | None | N |
C/G | 0.341 | ambiguous | 0.364 | ambiguous | -1.806 | Destabilizing | 0.679 | D | 0.585 | neutral | N | 0.48979416 | None | None | N |
C/H | 0.5789 | likely_pathogenic | 0.5904 | pathogenic | -2.001 | Highly Destabilizing | 0.96 | D | 0.684 | prob.neutral | None | None | None | None | N |
C/I | 0.4967 | ambiguous | 0.5112 | ambiguous | -0.75 | Destabilizing | 0.932 | D | 0.627 | neutral | None | None | None | None | N |
C/K | 0.8722 | likely_pathogenic | 0.8783 | pathogenic | -0.644 | Destabilizing | 0.037 | N | 0.483 | neutral | None | None | None | None | N |
C/L | 0.544 | ambiguous | 0.5707 | pathogenic | -0.75 | Destabilizing | 0.737 | D | 0.545 | neutral | None | None | None | None | N |
C/M | 0.691 | likely_pathogenic | 0.6971 | pathogenic | -0.04 | Destabilizing | 0.993 | D | 0.658 | neutral | None | None | None | None | N |
C/N | 0.6628 | likely_pathogenic | 0.6869 | pathogenic | -0.643 | Destabilizing | 0.872 | D | 0.635 | neutral | None | None | None | None | N |
C/P | 0.9872 | likely_pathogenic | 0.9871 | pathogenic | -0.975 | Destabilizing | 0.932 | D | 0.68 | prob.neutral | None | None | None | None | N |
C/Q | 0.7308 | likely_pathogenic | 0.7409 | pathogenic | -0.539 | Destabilizing | 0.872 | D | 0.65 | neutral | None | None | None | None | N |
C/R | 0.5901 | likely_pathogenic | 0.6017 | pathogenic | -0.678 | Destabilizing | 0.016 | N | 0.485 | neutral | N | 0.5081611 | None | None | N |
C/S | 0.4099 | ambiguous | 0.4179 | ambiguous | -1.162 | Destabilizing | 0.077 | N | 0.381 | neutral | D | 0.523071837 | None | None | N |
C/T | 0.5367 | ambiguous | 0.5435 | ambiguous | -0.872 | Destabilizing | 0.584 | D | 0.565 | neutral | None | None | None | None | N |
C/V | 0.4542 | ambiguous | 0.4527 | ambiguous | -0.975 | Destabilizing | 0.737 | D | 0.567 | neutral | None | None | None | None | N |
C/W | 0.5964 | likely_pathogenic | 0.5969 | pathogenic | -1.064 | Destabilizing | 0.993 | D | 0.645 | neutral | N | 0.490808118 | None | None | N |
C/Y | 0.2904 | likely_benign | 0.3113 | benign | -0.987 | Destabilizing | 0.064 | N | 0.47 | neutral | N | 0.415690869 | 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.