Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
---|---|---|---|---|
IC | 22174 | 66745;66746;66747 | chr2:178581748;178581747;178581746 | chr2:179446475;179446474;179446473 |
N2AB | 20533 | 61822;61823;61824 | chr2:178581748;178581747;178581746 | chr2:179446475;179446474;179446473 |
N2A | 19606 | 59041;59042;59043 | chr2:178581748;178581747;178581746 | chr2:179446475;179446474;179446473 |
N2B | 13109 | 39550;39551;39552 | chr2:178581748;178581747;178581746 | chr2:179446475;179446474;179446473 |
Novex-1 | 13234 | 39925;39926;39927 | chr2:178581748;178581747;178581746 | chr2:179446475;179446474;179446473 |
Novex-2 | 13301 | 40126;40127;40128 | chr2:178581748;178581747;178581746 | chr2:179446475;179446474;179446473 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
S/N | None | None | 0.892 | N | 0.531 | 0.171 | 0.218112801441 | gnomAD-4.0.0 | 6.87091E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.01962E-07 | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
S/A | 0.1324 | likely_benign | 0.1257 | benign | -0.939 | Destabilizing | 0.693 | D | 0.438 | neutral | None | None | None | None | N |
S/C | 0.1263 | likely_benign | 0.1188 | benign | -0.853 | Destabilizing | 0.999 | D | 0.738 | prob.delet. | N | 0.502705904 | None | None | N |
S/D | 0.7788 | likely_pathogenic | 0.7872 | pathogenic | -1.176 | Destabilizing | 0.916 | D | 0.522 | neutral | None | None | None | None | N |
S/E | 0.7995 | likely_pathogenic | 0.8193 | pathogenic | -1.09 | Destabilizing | 0.916 | D | 0.531 | neutral | None | None | None | None | N |
S/F | 0.2377 | likely_benign | 0.2314 | benign | -0.915 | Destabilizing | 0.987 | D | 0.78 | deleterious | None | None | None | None | N |
S/G | 0.2445 | likely_benign | 0.2438 | benign | -1.236 | Destabilizing | 0.892 | D | 0.502 | neutral | N | 0.479575219 | None | None | N |
S/H | 0.4358 | ambiguous | 0.4445 | ambiguous | -1.557 | Destabilizing | 0.999 | D | 0.734 | prob.delet. | None | None | None | None | N |
S/I | 0.2369 | likely_benign | 0.2293 | benign | -0.227 | Destabilizing | 0.967 | D | 0.723 | prob.delet. | N | 0.511747617 | None | None | N |
S/K | 0.8474 | likely_pathogenic | 0.8667 | pathogenic | -0.634 | Destabilizing | 0.916 | D | 0.525 | neutral | None | None | None | None | N |
S/L | 0.1412 | likely_benign | 0.1425 | benign | -0.227 | Destabilizing | 0.845 | D | 0.621 | neutral | None | None | None | None | N |
S/M | 0.2078 | likely_benign | 0.2102 | benign | -0.177 | Destabilizing | 0.999 | D | 0.735 | prob.delet. | None | None | None | None | N |
S/N | 0.3156 | likely_benign | 0.3099 | benign | -0.92 | Destabilizing | 0.892 | D | 0.531 | neutral | N | 0.497471598 | None | None | N |
S/P | 0.9647 | likely_pathogenic | 0.9674 | pathogenic | -0.432 | Destabilizing | 0.987 | D | 0.707 | prob.neutral | None | None | None | None | N |
S/Q | 0.6483 | likely_pathogenic | 0.6804 | pathogenic | -0.989 | Destabilizing | 0.987 | D | 0.647 | neutral | None | None | None | None | N |
S/R | 0.7952 | likely_pathogenic | 0.8128 | pathogenic | -0.633 | Destabilizing | 0.967 | D | 0.717 | prob.delet. | N | 0.507725877 | None | None | N |
S/T | 0.0966 | likely_benign | 0.0911 | benign | -0.789 | Destabilizing | 0.025 | N | 0.423 | neutral | N | 0.424203204 | None | None | N |
S/V | 0.2473 | likely_benign | 0.2441 | benign | -0.432 | Destabilizing | 0.95 | D | 0.681 | prob.neutral | None | None | None | None | N |
S/W | 0.4446 | ambiguous | 0.4335 | ambiguous | -0.974 | Destabilizing | 0.999 | D | 0.767 | deleterious | None | None | None | None | N |
S/Y | 0.2386 | likely_benign | 0.2368 | benign | -0.638 | Destabilizing | 0.996 | D | 0.773 | deleterious | 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.