Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
---|---|---|---|---|
IC | 31761 | 95506;95507;95508 | chr2:178545955;178545954;178545953 | chr2:179410682;179410681;179410680 |
N2AB | 30120 | 90583;90584;90585 | chr2:178545955;178545954;178545953 | chr2:179410682;179410681;179410680 |
N2A | 29193 | 87802;87803;87804 | chr2:178545955;178545954;178545953 | chr2:179410682;179410681;179410680 |
N2B | 22696 | 68311;68312;68313 | chr2:178545955;178545954;178545953 | chr2:179410682;179410681;179410680 |
Novex-1 | 22821 | 68686;68687;68688 | chr2:178545955;178545954;178545953 | chr2:179410682;179410681;179410680 |
Novex-2 | 22888 | 68887;68888;68889 | chr2:178545955;178545954;178545953 | chr2:179410682;179410681;179410680 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
E/K | rs727505342 | -0.117 | 1.0 | N | 0.574 | 0.411 | 0.332646915603 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 1.78E-05 | 0 |
E/K | rs727505342 | -0.117 | 1.0 | N | 0.574 | 0.411 | 0.332646915603 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | I | None | 4.83E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
E/K | rs727505342 | -0.117 | 1.0 | N | 0.574 | 0.411 | 0.332646915603 | gnomAD-4.0.0 | 9.29459E-06 | None | None | None | None | I | None | 2.66539E-05 | 1.6665E-05 | None | 0 | 0 | None | 0 | 1.64962E-04 | 7.62842E-06 | 2.19578E-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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
E/A | 0.1206 | likely_benign | 0.1158 | benign | -0.579 | Destabilizing | 0.999 | D | 0.648 | neutral | N | 0.479019123 | None | None | I |
E/C | 0.7188 | likely_pathogenic | 0.688 | pathogenic | -0.261 | Destabilizing | 1.0 | D | 0.713 | prob.delet. | None | None | None | None | I |
E/D | 0.118 | likely_benign | 0.1027 | benign | -0.399 | Destabilizing | 0.999 | D | 0.422 | neutral | N | 0.410369902 | None | None | I |
E/F | 0.597 | likely_pathogenic | 0.5633 | ambiguous | -0.373 | Destabilizing | 1.0 | D | 0.691 | prob.neutral | None | None | None | None | I |
E/G | 0.1745 | likely_benign | 0.1496 | benign | -0.81 | Destabilizing | 1.0 | D | 0.623 | neutral | N | 0.454950185 | None | None | I |
E/H | 0.3535 | ambiguous | 0.3214 | benign | -0.242 | Destabilizing | 1.0 | D | 0.655 | neutral | None | None | None | None | I |
E/I | 0.2402 | likely_benign | 0.2379 | benign | 0.014 | Stabilizing | 1.0 | D | 0.701 | prob.neutral | None | None | None | None | I |
E/K | 0.1272 | likely_benign | 0.1171 | benign | -0.186 | Destabilizing | 1.0 | D | 0.574 | neutral | N | 0.45983593 | None | None | I |
E/L | 0.324 | likely_benign | 0.3049 | benign | 0.014 | Stabilizing | 1.0 | D | 0.682 | prob.neutral | None | None | None | None | I |
E/M | 0.35 | ambiguous | 0.3392 | benign | 0.151 | Stabilizing | 1.0 | D | 0.641 | neutral | None | None | None | None | I |
E/N | 0.1643 | likely_benign | 0.1414 | benign | -0.357 | Destabilizing | 1.0 | D | 0.691 | prob.neutral | None | None | None | None | I |
E/P | 0.4859 | ambiguous | 0.503 | ambiguous | -0.163 | Destabilizing | 1.0 | D | 0.671 | neutral | None | None | None | None | I |
E/Q | 0.1146 | likely_benign | 0.1106 | benign | -0.306 | Destabilizing | 1.0 | D | 0.61 | neutral | N | 0.493623217 | None | None | I |
E/R | 0.2164 | likely_benign | 0.2053 | benign | 0.123 | Stabilizing | 1.0 | D | 0.685 | prob.neutral | None | None | None | None | I |
E/S | 0.1438 | likely_benign | 0.1284 | benign | -0.606 | Destabilizing | 0.999 | D | 0.643 | neutral | None | None | None | None | I |
E/T | 0.156 | likely_benign | 0.149 | benign | -0.429 | Destabilizing | 1.0 | D | 0.675 | neutral | None | None | None | None | I |
E/V | 0.1551 | likely_benign | 0.156 | benign | -0.163 | Destabilizing | 1.0 | D | 0.672 | neutral | N | 0.490505554 | None | None | I |
E/W | 0.862 | likely_pathogenic | 0.8451 | pathogenic | -0.209 | Destabilizing | 1.0 | D | 0.715 | prob.delet. | None | None | None | None | I |
E/Y | 0.4896 | ambiguous | 0.4512 | ambiguous | -0.154 | Destabilizing | 1.0 | D | 0.66 | 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.