Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
---|---|---|---|---|
IC | 30625 | 92098;92099;92100 | chr2:178549849;178549848;178549847 | chr2:179414576;179414575;179414574 |
N2AB | 28984 | 87175;87176;87177 | chr2:178549849;178549848;178549847 | chr2:179414576;179414575;179414574 |
N2A | 28057 | 84394;84395;84396 | chr2:178549849;178549848;178549847 | chr2:179414576;179414575;179414574 |
N2B | 21560 | 64903;64904;64905 | chr2:178549849;178549848;178549847 | chr2:179414576;179414575;179414574 |
Novex-1 | 21685 | 65278;65279;65280 | chr2:178549849;178549848;178549847 | chr2:179414576;179414575;179414574 |
Novex-2 | 21752 | 65479;65480;65481 | chr2:178549849;178549848;178549847 | chr2:179414576;179414575;179414574 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
G/R | None | None | 1.0 | N | 0.677 | 0.607 | 0.586724321019 | gnomAD-4.0.0 | 1.69565E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.80599E-05 | None | 0 | 0 | 0 | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
G/A | 0.381 | ambiguous | 0.4515 | ambiguous | -0.376 | Destabilizing | 1.0 | D | 0.638 | neutral | N | 0.473279844 | None | None | N |
G/C | 0.7105 | likely_pathogenic | 0.7776 | pathogenic | -0.887 | Destabilizing | 1.0 | D | 0.666 | neutral | None | None | None | None | N |
G/D | 0.8543 | likely_pathogenic | 0.8832 | pathogenic | -0.738 | Destabilizing | 1.0 | D | 0.719 | prob.delet. | None | None | None | None | N |
G/E | 0.8259 | likely_pathogenic | 0.8603 | pathogenic | -0.878 | Destabilizing | 1.0 | D | 0.704 | prob.neutral | N | 0.495143081 | None | None | N |
G/F | 0.9268 | likely_pathogenic | 0.9437 | pathogenic | -0.955 | Destabilizing | 1.0 | D | 0.639 | neutral | None | None | None | None | N |
G/H | 0.9466 | likely_pathogenic | 0.9594 | pathogenic | -0.669 | Destabilizing | 1.0 | D | 0.653 | neutral | None | None | None | None | N |
G/I | 0.8942 | likely_pathogenic | 0.9091 | pathogenic | -0.392 | Destabilizing | 1.0 | D | 0.649 | neutral | None | None | None | None | N |
G/K | 0.9428 | likely_pathogenic | 0.953 | pathogenic | -1.041 | Destabilizing | 1.0 | D | 0.704 | prob.neutral | None | None | None | None | N |
G/L | 0.874 | likely_pathogenic | 0.9007 | pathogenic | -0.392 | Destabilizing | 1.0 | D | 0.672 | neutral | None | None | None | None | N |
G/M | 0.9277 | likely_pathogenic | 0.9465 | pathogenic | -0.495 | Destabilizing | 1.0 | D | 0.661 | neutral | None | None | None | None | N |
G/N | 0.8845 | likely_pathogenic | 0.9053 | pathogenic | -0.645 | Destabilizing | 1.0 | D | 0.701 | prob.neutral | None | None | None | None | N |
G/P | 0.928 | likely_pathogenic | 0.9296 | pathogenic | -0.351 | Destabilizing | 1.0 | D | 0.676 | prob.neutral | None | None | None | None | N |
G/Q | 0.9089 | likely_pathogenic | 0.9298 | pathogenic | -0.911 | Destabilizing | 1.0 | D | 0.679 | prob.neutral | None | None | None | None | N |
G/R | 0.9125 | likely_pathogenic | 0.9298 | pathogenic | -0.579 | Destabilizing | 1.0 | D | 0.677 | prob.neutral | N | 0.496157039 | None | None | N |
G/S | 0.3915 | ambiguous | 0.4515 | ambiguous | -0.796 | Destabilizing | 1.0 | D | 0.695 | prob.neutral | None | None | None | None | N |
G/T | 0.7394 | likely_pathogenic | 0.773 | pathogenic | -0.865 | Destabilizing | 1.0 | D | 0.702 | prob.neutral | None | None | None | None | N |
G/V | 0.825 | likely_pathogenic | 0.8541 | pathogenic | -0.351 | Destabilizing | 1.0 | D | 0.682 | prob.neutral | N | 0.506325257 | None | None | N |
G/W | 0.9042 | likely_pathogenic | 0.9183 | pathogenic | -1.15 | Destabilizing | 1.0 | D | 0.664 | neutral | D | 0.524683002 | None | None | N |
G/Y | 0.8965 | likely_pathogenic | 0.9185 | pathogenic | -0.798 | Destabilizing | 1.0 | D | 0.634 | neutral | None | None | 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.