Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
---|---|---|---|---|
IC | 29711 | 89356;89357;89358 | chr2:178553980;178553979;178553978 | chr2:179418707;179418706;179418705 |
N2AB | 28070 | 84433;84434;84435 | chr2:178553980;178553979;178553978 | chr2:179418707;179418706;179418705 |
N2A | 27143 | 81652;81653;81654 | chr2:178553980;178553979;178553978 | chr2:179418707;179418706;179418705 |
N2B | 20646 | 62161;62162;62163 | chr2:178553980;178553979;178553978 | chr2:179418707;179418706;179418705 |
Novex-1 | 20771 | 62536;62537;62538 | chr2:178553980;178553979;178553978 | chr2:179418707;179418706;179418705 |
Novex-2 | 20838 | 62737;62738;62739 | chr2:178553980;178553979;178553978 | chr2:179418707;179418706;179418705 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
V/I | None | None | None | N | 0.18 | 0.097 | 0.263140351381 | gnomAD-4.0.0 | 1.59482E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43509E-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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
V/A | 0.3113 | likely_benign | 0.3236 | benign | -1.929 | Destabilizing | 0.22 | N | 0.471 | neutral | N | 0.47578392 | None | None | I |
V/C | 0.7255 | likely_pathogenic | 0.7689 | pathogenic | -1.919 | Destabilizing | 0.968 | D | 0.701 | prob.neutral | None | None | None | None | I |
V/D | 0.7754 | likely_pathogenic | 0.7655 | pathogenic | -2.468 | Highly Destabilizing | 0.89 | D | 0.803 | deleterious | None | None | None | None | I |
V/E | 0.4067 | ambiguous | 0.3995 | ambiguous | -2.309 | Highly Destabilizing | 0.667 | D | 0.726 | prob.delet. | N | 0.440085094 | None | None | I |
V/F | 0.2485 | likely_benign | 0.2627 | benign | -1.255 | Destabilizing | 0.396 | N | 0.724 | prob.delet. | None | None | None | None | I |
V/G | 0.5436 | ambiguous | 0.5487 | ambiguous | -2.383 | Highly Destabilizing | 0.667 | D | 0.759 | deleterious | N | 0.515412698 | None | None | I |
V/H | 0.7465 | likely_pathogenic | 0.7811 | pathogenic | -1.981 | Destabilizing | 0.968 | D | 0.793 | deleterious | None | None | None | None | I |
V/I | 0.0662 | likely_benign | 0.0672 | benign | -0.694 | Destabilizing | None | N | 0.18 | neutral | N | 0.476389824 | None | None | I |
V/K | 0.5478 | ambiguous | 0.5627 | ambiguous | -1.434 | Destabilizing | 0.726 | D | 0.729 | prob.delet. | None | None | None | None | I |
V/L | 0.1817 | likely_benign | 0.1974 | benign | -0.694 | Destabilizing | 0.001 | N | 0.261 | neutral | N | 0.484124804 | None | None | I |
V/M | 0.1339 | likely_benign | 0.1419 | benign | -1.001 | Destabilizing | 0.396 | N | 0.56 | neutral | None | None | None | None | I |
V/N | 0.5301 | ambiguous | 0.548 | ambiguous | -1.674 | Destabilizing | 0.89 | D | 0.805 | deleterious | None | None | None | None | I |
V/P | 0.982 | likely_pathogenic | 0.9825 | pathogenic | -1.078 | Destabilizing | 0.89 | D | 0.759 | deleterious | None | None | None | None | I |
V/Q | 0.4055 | ambiguous | 0.438 | ambiguous | -1.641 | Destabilizing | 0.89 | D | 0.755 | deleterious | None | None | None | None | I |
V/R | 0.5472 | ambiguous | 0.5549 | ambiguous | -1.202 | Destabilizing | 0.726 | D | 0.807 | deleterious | None | None | None | None | I |
V/S | 0.3934 | ambiguous | 0.413 | ambiguous | -2.293 | Highly Destabilizing | 0.726 | D | 0.701 | prob.neutral | None | None | None | None | I |
V/T | 0.2595 | likely_benign | 0.285 | benign | -2.002 | Highly Destabilizing | 0.272 | N | 0.517 | neutral | None | None | None | None | I |
V/W | 0.8923 | likely_pathogenic | 0.9037 | pathogenic | -1.625 | Destabilizing | 0.968 | D | 0.749 | deleterious | None | None | None | None | I |
V/Y | 0.6577 | likely_pathogenic | 0.6879 | pathogenic | -1.278 | Destabilizing | 0.726 | D | 0.736 | prob.delet. | None | None | None | None | I |
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.