Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
---|---|---|---|---|
IC | 6138 | 18637;18638;18639 | chr2:178729841;178729840;178729839 | chr2:179594568;179594567;179594566 |
N2AB | 5821 | 17686;17687;17688 | chr2:178729841;178729840;178729839 | chr2:179594568;179594567;179594566 |
N2A | 4894 | 14905;14906;14907 | chr2:178729841;178729840;178729839 | chr2:179594568;179594567;179594566 |
N2B | None | None | chr2:None | chr2:None |
Novex-1 | None | None | chr2:None | chr2:None |
Novex-2 | None | None | chr2:None | chr2:None |
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/F | None | None | 0.473 | N | 0.585 | 0.391 | 0.517765160837 | gnomAD-4.0.0 | 6.84262E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.15934E-05 | 0 |
S/Y | rs727504477 | -0.123 | 0.01 | N | 0.417 | 0.336 | 0.468420198123 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.88E-06 | 0 |
S/Y | rs727504477 | -0.123 | 0.01 | N | 0.417 | 0.336 | 0.468420198123 | gnomAD-4.0.0 | 7.52688E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.89447E-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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
S/A | 0.0851 | likely_benign | 0.0846 | benign | -0.64 | Destabilizing | 0.002 | N | 0.193 | neutral | N | 0.496813529 | None | None | N |
S/C | 0.1551 | likely_benign | 0.171 | benign | -0.306 | Destabilizing | 0.927 | D | 0.585 | neutral | D | 0.526021715 | None | None | N |
S/D | 0.3308 | likely_benign | 0.3298 | benign | -0.351 | Destabilizing | 0.329 | N | 0.448 | neutral | None | None | None | None | N |
S/E | 0.4547 | ambiguous | 0.4482 | ambiguous | -0.286 | Destabilizing | 0.495 | N | 0.437 | neutral | None | None | None | None | N |
S/F | 0.1578 | likely_benign | 0.1605 | benign | -0.566 | Destabilizing | 0.473 | N | 0.585 | neutral | N | 0.510764261 | None | None | N |
S/G | 0.1133 | likely_benign | 0.1177 | benign | -0.962 | Destabilizing | 0.329 | N | 0.43 | neutral | None | None | None | None | N |
S/H | 0.2655 | likely_benign | 0.2654 | benign | -1.355 | Destabilizing | 0.893 | D | 0.593 | neutral | None | None | None | None | N |
S/I | 0.1519 | likely_benign | 0.1494 | benign | 0.13 | Stabilizing | 0.704 | D | 0.58 | neutral | None | None | None | None | N |
S/K | 0.5015 | ambiguous | 0.4868 | ambiguous | -0.58 | Destabilizing | 0.495 | N | 0.439 | neutral | None | None | None | None | N |
S/L | 0.1042 | likely_benign | 0.1045 | benign | 0.13 | Stabilizing | 0.329 | N | 0.545 | neutral | None | None | None | None | N |
S/M | 0.2136 | likely_benign | 0.2121 | benign | 0.217 | Stabilizing | 0.981 | D | 0.583 | neutral | None | None | None | None | N |
S/N | 0.1198 | likely_benign | 0.1227 | benign | -0.69 | Destabilizing | 0.013 | N | 0.22 | neutral | None | None | None | None | N |
S/P | 0.8175 | likely_pathogenic | 0.7956 | pathogenic | -0.091 | Destabilizing | 0.784 | D | 0.593 | neutral | N | 0.51360377 | None | None | N |
S/Q | 0.4116 | ambiguous | 0.4114 | ambiguous | -0.665 | Destabilizing | 0.828 | D | 0.547 | neutral | None | None | None | None | N |
S/R | 0.3673 | ambiguous | 0.3711 | ambiguous | -0.631 | Destabilizing | 0.704 | D | 0.577 | neutral | None | None | None | None | N |
S/T | 0.0783 | likely_benign | 0.0783 | benign | -0.601 | Destabilizing | 0.003 | N | 0.181 | neutral | N | 0.395745245 | None | None | N |
S/V | 0.174 | likely_benign | 0.174 | benign | -0.091 | Destabilizing | 0.329 | N | 0.549 | neutral | None | None | None | None | N |
S/W | 0.2738 | likely_benign | 0.2785 | benign | -0.665 | Destabilizing | 0.985 | D | 0.617 | neutral | None | None | None | None | N |
S/Y | 0.16 | likely_benign | 0.1604 | benign | -0.347 | Destabilizing | 0.01 | N | 0.417 | neutral | N | 0.475747611 | 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.