Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
---|---|---|---|---|
IC | 2406 | 7441;7442;7443 | chr2:178773952;178773951;178773950 | chr2:179638679;179638678;179638677 |
N2AB | 2406 | 7441;7442;7443 | chr2:178773952;178773951;178773950 | chr2:179638679;179638678;179638677 |
N2A | 2406 | 7441;7442;7443 | chr2:178773952;178773951;178773950 | chr2:179638679;179638678;179638677 |
N2B | 2360 | 7303;7304;7305 | chr2:178773952;178773951;178773950 | chr2:179638679;179638678;179638677 |
Novex-1 | 2360 | 7303;7304;7305 | chr2:178773952;178773951;178773950 | chr2:179638679;179638678;179638677 |
Novex-2 | 2360 | 7303;7304;7305 | chr2:178773952;178773951;178773950 | chr2:179638679;179638678;179638677 |
Novex-3 | 2406 | 7441;7442;7443 | chr2:178773952;178773951;178773950 | chr2:179638679;179638678;179638677 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
D/E | rs772454567 | 0.192 | 1.0 | D | 0.447 | 0.535 | 0.543209242439 | gnomAD-2.1.1 | 3.99E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
D/E | rs772454567 | 0.192 | 1.0 | D | 0.447 | 0.535 | 0.543209242439 | gnomAD-4.0.0 | 1.59052E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43271E-05 | 0 |
D/G | rs2091891924 | None | 1.0 | D | 0.649 | 0.717 | 0.562617508568 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
D/G | rs2091891924 | None | 1.0 | D | 0.649 | 0.717 | 0.562617508568 | gnomAD-4.0.0 | 2.56126E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.7837E-06 | 0 | 0 |
D/N | None | None | 1.0 | D | 0.635 | 0.583 | 0.499218193508 | gnomAD-4.0.0 | 1.59052E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43271E-05 | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
D/A | 0.8194 | likely_pathogenic | 0.8208 | pathogenic | -0.145 | Destabilizing | 1.0 | D | 0.689 | prob.neutral | D | 0.681404327 | None | None | N |
D/C | 0.9809 | likely_pathogenic | 0.9803 | pathogenic | 0.063 | Stabilizing | 1.0 | D | 0.718 | prob.delet. | None | None | None | None | N |
D/E | 0.6654 | likely_pathogenic | 0.6673 | pathogenic | -0.243 | Destabilizing | 1.0 | D | 0.447 | neutral | D | 0.548267493 | None | None | N |
D/F | 0.9611 | likely_pathogenic | 0.96 | pathogenic | -0.184 | Destabilizing | 1.0 | D | 0.718 | prob.delet. | None | None | None | None | N |
D/G | 0.7364 | likely_pathogenic | 0.7431 | pathogenic | -0.313 | Destabilizing | 1.0 | D | 0.649 | neutral | D | 0.642988733 | None | None | N |
D/H | 0.8846 | likely_pathogenic | 0.8795 | pathogenic | 0.07 | Stabilizing | 1.0 | D | 0.661 | neutral | D | 0.717575251 | None | None | N |
D/I | 0.9598 | likely_pathogenic | 0.9599 | pathogenic | 0.24 | Stabilizing | 1.0 | D | 0.733 | prob.delet. | None | None | None | None | N |
D/K | 0.9562 | likely_pathogenic | 0.9563 | pathogenic | 0.369 | Stabilizing | 1.0 | D | 0.695 | prob.neutral | None | None | None | None | N |
D/L | 0.9213 | likely_pathogenic | 0.9209 | pathogenic | 0.24 | Stabilizing | 1.0 | D | 0.751 | deleterious | None | None | None | None | N |
D/M | 0.9799 | likely_pathogenic | 0.9801 | pathogenic | 0.278 | Stabilizing | 1.0 | D | 0.718 | prob.delet. | None | None | None | None | N |
D/N | 0.4926 | ambiguous | 0.481 | ambiguous | 0.164 | Stabilizing | 1.0 | D | 0.635 | neutral | D | 0.56734327 | None | None | N |
D/P | 0.9912 | likely_pathogenic | 0.9919 | pathogenic | 0.133 | Stabilizing | 1.0 | D | 0.691 | prob.neutral | None | None | None | None | N |
D/Q | 0.9089 | likely_pathogenic | 0.9032 | pathogenic | 0.18 | Stabilizing | 1.0 | D | 0.679 | prob.neutral | None | None | None | None | N |
D/R | 0.9396 | likely_pathogenic | 0.938 | pathogenic | 0.528 | Stabilizing | 1.0 | D | 0.723 | prob.delet. | None | None | None | None | N |
D/S | 0.588 | likely_pathogenic | 0.5805 | pathogenic | 0.051 | Stabilizing | 1.0 | D | 0.638 | neutral | None | None | None | None | N |
D/T | 0.8911 | likely_pathogenic | 0.8911 | pathogenic | 0.178 | Stabilizing | 1.0 | D | 0.697 | prob.neutral | None | None | None | None | N |
D/V | 0.899 | likely_pathogenic | 0.8995 | pathogenic | 0.133 | Stabilizing | 1.0 | D | 0.752 | deleterious | D | 0.658474577 | None | None | N |
D/W | 0.9921 | likely_pathogenic | 0.9912 | pathogenic | -0.104 | Destabilizing | 1.0 | D | 0.713 | prob.delet. | None | None | None | None | N |
D/Y | 0.8443 | likely_pathogenic | 0.8337 | pathogenic | 0.043 | Stabilizing | 1.0 | D | 0.707 | prob.neutral | D | 0.717575251 | 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.