Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
---|---|---|---|---|
IC | 30115 | 90568;90569;90570 | chr2:178552557;178552556;178552555 | chr2:179417284;179417283;179417282 |
N2AB | 28474 | 85645;85646;85647 | chr2:178552557;178552556;178552555 | chr2:179417284;179417283;179417282 |
N2A | 27547 | 82864;82865;82866 | chr2:178552557;178552556;178552555 | chr2:179417284;179417283;179417282 |
N2B | 21050 | 63373;63374;63375 | chr2:178552557;178552556;178552555 | chr2:179417284;179417283;179417282 |
Novex-1 | 21175 | 63748;63749;63750 | chr2:178552557;178552556;178552555 | chr2:179417284;179417283;179417282 |
Novex-2 | 21242 | 63949;63950;63951 | chr2:178552557;178552556;178552555 | chr2:179417284;179417283;179417282 |
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/L | rs773932096 | -0.37 | 0.435 | N | 0.441 | 0.173 | 0.20549828249 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | I | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
V/L | rs773932096 | -0.37 | 0.435 | N | 0.441 | 0.173 | 0.20549828249 | gnomAD-4.0.0 | 1.59131E-06 | None | None | None | None | I | None | 0 | 2.28666E-05 | None | 0 | 0 | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
V/A | 0.1745 | likely_benign | 0.1322 | benign | -1.294 | Destabilizing | 0.002 | N | 0.26 | neutral | N | 0.429952953 | None | None | I |
V/C | 0.7036 | likely_pathogenic | 0.6562 | pathogenic | -0.723 | Destabilizing | 0.995 | D | 0.563 | neutral | None | None | None | None | I |
V/D | 0.4617 | ambiguous | 0.3607 | ambiguous | -1.225 | Destabilizing | 0.651 | D | 0.698 | prob.delet. | N | 0.455408758 | None | None | I |
V/E | 0.3355 | likely_benign | 0.2623 | benign | -1.11 | Destabilizing | 0.712 | D | 0.624 | neutral | None | None | None | None | I |
V/F | 0.2463 | likely_benign | 0.1912 | benign | -0.738 | Destabilizing | 0.93 | D | 0.604 | neutral | N | 0.51405163 | None | None | I |
V/G | 0.2804 | likely_benign | 0.2056 | benign | -1.717 | Destabilizing | 0.278 | N | 0.608 | neutral | N | 0.451752377 | None | None | I |
V/H | 0.6304 | likely_pathogenic | 0.5438 | ambiguous | -1.353 | Destabilizing | 0.995 | D | 0.792 | deleterious | None | None | None | None | I |
V/I | 0.0931 | likely_benign | 0.0816 | benign | -0.189 | Destabilizing | 0.435 | N | 0.51 | neutral | N | 0.495292511 | None | None | I |
V/K | 0.3953 | ambiguous | 0.3345 | benign | -1.026 | Destabilizing | 0.712 | D | 0.635 | neutral | None | None | None | None | I |
V/L | 0.2596 | likely_benign | 0.2015 | benign | -0.189 | Destabilizing | 0.435 | N | 0.441 | neutral | N | 0.396013738 | None | None | I |
V/M | 0.1674 | likely_benign | 0.1223 | benign | -0.159 | Destabilizing | 0.982 | D | 0.468 | neutral | None | None | None | None | I |
V/N | 0.336 | likely_benign | 0.2576 | benign | -1.073 | Destabilizing | 0.712 | D | 0.724 | deleterious | None | None | None | None | I |
V/P | 0.896 | likely_pathogenic | 0.8528 | pathogenic | -0.524 | Destabilizing | 0.946 | D | 0.679 | prob.neutral | None | None | None | None | I |
V/Q | 0.3254 | likely_benign | 0.2778 | benign | -1.047 | Destabilizing | 0.946 | D | 0.681 | prob.neutral | None | None | None | None | I |
V/R | 0.3741 | ambiguous | 0.3238 | benign | -0.771 | Destabilizing | 0.946 | D | 0.735 | deleterious | None | None | None | None | I |
V/S | 0.2202 | likely_benign | 0.1775 | benign | -1.654 | Destabilizing | 0.039 | N | 0.44 | neutral | None | None | None | None | I |
V/T | 0.1746 | likely_benign | 0.1417 | benign | -1.411 | Destabilizing | 0.032 | N | 0.205 | neutral | None | None | None | None | I |
V/W | 0.9093 | likely_pathogenic | 0.8545 | pathogenic | -1.133 | Destabilizing | 0.995 | D | 0.816 | deleterious | None | None | None | None | I |
V/Y | 0.6316 | likely_pathogenic | 0.5453 | ambiguous | -0.709 | Destabilizing | 0.982 | D | 0.589 | neutral | 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.