Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
---|---|---|---|---|
IC | 34371 | 103336;103337;103338 | chr2:178533504;178533503;178533502 | chr2:179398231;179398230;179398229 |
N2AB | 32730 | 98413;98414;98415 | chr2:178533504;178533503;178533502 | chr2:179398231;179398230;179398229 |
N2A | 31803 | 95632;95633;95634 | chr2:178533504;178533503;178533502 | chr2:179398231;179398230;179398229 |
N2B | 25306 | 76141;76142;76143 | chr2:178533504;178533503;178533502 | chr2:179398231;179398230;179398229 |
Novex-1 | 25431 | 76516;76517;76518 | chr2:178533504;178533503;178533502 | chr2:179398231;179398230;179398229 |
Novex-2 | 25498 | 76717;76718;76719 | chr2:178533504;178533503;178533502 | chr2:179398231;179398230;179398229 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
N/H | None | None | 0.999 | N | 0.628 | 0.661 | 0.401185642668 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
N/S | None | None | 0.977 | N | 0.429 | 0.451 | 0.243972157842 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
N/A | 0.8113 | likely_pathogenic | 0.7369 | pathogenic | -0.328 | Destabilizing | 0.966 | D | 0.549 | neutral | None | None | None | None | N |
N/C | 0.9051 | likely_pathogenic | 0.8692 | pathogenic | 0.367 | Stabilizing | 1.0 | D | 0.751 | deleterious | None | None | None | None | N |
N/D | 0.4596 | ambiguous | 0.4147 | ambiguous | 0.168 | Stabilizing | 0.989 | D | 0.489 | neutral | N | 0.430433822 | None | None | N |
N/E | 0.9385 | likely_pathogenic | 0.9121 | pathogenic | 0.147 | Stabilizing | 0.998 | D | 0.568 | neutral | None | None | None | None | N |
N/F | 0.9832 | likely_pathogenic | 0.9719 | pathogenic | -0.631 | Destabilizing | 1.0 | D | 0.733 | prob.delet. | None | None | None | None | N |
N/G | 0.776 | likely_pathogenic | 0.703 | pathogenic | -0.519 | Destabilizing | 0.15 | N | 0.207 | neutral | None | None | None | None | N |
N/H | 0.6563 | likely_pathogenic | 0.542 | ambiguous | -0.519 | Destabilizing | 0.999 | D | 0.628 | neutral | N | 0.497260715 | None | None | N |
N/I | 0.948 | likely_pathogenic | 0.9132 | pathogenic | 0.095 | Stabilizing | 0.999 | D | 0.755 | deleterious | N | 0.50104615 | None | None | N |
N/K | 0.9512 | likely_pathogenic | 0.9231 | pathogenic | 0.068 | Stabilizing | 0.997 | D | 0.592 | neutral | N | 0.502425275 | None | None | N |
N/L | 0.9134 | likely_pathogenic | 0.8698 | pathogenic | 0.095 | Stabilizing | 0.998 | D | 0.721 | prob.delet. | None | None | None | None | N |
N/M | 0.9481 | likely_pathogenic | 0.9186 | pathogenic | 0.316 | Stabilizing | 1.0 | D | 0.71 | prob.delet. | None | None | None | None | N |
N/P | 0.8244 | likely_pathogenic | 0.7835 | pathogenic | -0.019 | Destabilizing | 0.999 | D | 0.724 | prob.delet. | None | None | None | None | N |
N/Q | 0.9302 | likely_pathogenic | 0.8961 | pathogenic | -0.253 | Destabilizing | 0.999 | D | 0.636 | neutral | None | None | None | None | N |
N/R | 0.9408 | likely_pathogenic | 0.9078 | pathogenic | 0.09 | Stabilizing | 0.998 | D | 0.633 | neutral | None | None | None | None | N |
N/S | 0.202 | likely_benign | 0.1662 | benign | -0.092 | Destabilizing | 0.977 | D | 0.429 | neutral | N | 0.492695789 | None | None | N |
N/T | 0.6396 | likely_pathogenic | 0.5385 | ambiguous | 0.033 | Stabilizing | 0.989 | D | 0.569 | neutral | D | 0.524693564 | None | None | N |
N/V | 0.9063 | likely_pathogenic | 0.8569 | pathogenic | -0.019 | Destabilizing | 0.998 | D | 0.743 | deleterious | None | None | None | None | N |
N/W | 0.9937 | likely_pathogenic | 0.9894 | pathogenic | -0.625 | Destabilizing | 1.0 | D | 0.721 | prob.delet. | None | None | None | None | N |
N/Y | 0.8678 | likely_pathogenic | 0.8066 | pathogenic | -0.361 | Destabilizing | 0.999 | D | 0.731 | prob.delet. | D | 0.52401225 | 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.