Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
---|---|---|---|---|
IC | 6242 | 18949;18950;18951 | chr2:178729432;178729431;178729430 | chr2:179594159;179594158;179594157 |
N2AB | 5925 | 17998;17999;18000 | chr2:178729432;178729431;178729430 | chr2:179594159;179594158;179594157 |
N2A | 4998 | 15217;15218;15219 | chr2:178729432;178729431;178729430 | chr2:179594159;179594158;179594157 |
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/G | None | None | 0.001 | N | 0.237 | 0.106 | 0.0806252709748 | gnomAD-4.0.0 | 2.40064E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.625E-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 | 0.1843 | likely_benign | 0.199 | benign | -0.483 | Destabilizing | 0.121 | N | 0.349 | neutral | None | None | None | None | N |
S/C | 0.1889 | likely_benign | 0.2524 | benign | -0.395 | Destabilizing | 0.976 | D | 0.42 | neutral | N | 0.487526667 | None | None | N |
S/D | 0.544 | ambiguous | 0.6806 | pathogenic | 0.467 | Stabilizing | 0.399 | N | 0.338 | neutral | None | None | None | None | N |
S/E | 0.8201 | likely_pathogenic | 0.8961 | pathogenic | 0.389 | Stabilizing | 0.574 | D | 0.333 | neutral | None | None | None | None | N |
S/F | 0.6776 | likely_pathogenic | 0.7024 | pathogenic | -1.109 | Destabilizing | 0.935 | D | 0.511 | neutral | None | None | None | None | N |
S/G | 0.0609 | likely_benign | 0.0781 | benign | -0.591 | Destabilizing | 0.001 | N | 0.237 | neutral | N | 0.440836377 | None | None | N |
S/H | 0.6289 | likely_pathogenic | 0.7025 | pathogenic | -1.003 | Destabilizing | 0.982 | D | 0.377 | neutral | None | None | None | None | N |
S/I | 0.5241 | ambiguous | 0.613 | pathogenic | -0.326 | Destabilizing | 0.781 | D | 0.49 | neutral | N | 0.487273177 | None | None | N |
S/K | 0.9079 | likely_pathogenic | 0.9479 | pathogenic | -0.359 | Destabilizing | 0.399 | N | 0.354 | neutral | None | None | None | None | N |
S/L | 0.3255 | likely_benign | 0.3378 | benign | -0.326 | Destabilizing | 0.826 | D | 0.433 | neutral | None | None | None | None | N |
S/M | 0.4947 | ambiguous | 0.5255 | ambiguous | -0.213 | Destabilizing | 0.982 | D | 0.395 | neutral | None | None | None | None | N |
S/N | 0.2002 | likely_benign | 0.2635 | benign | -0.197 | Destabilizing | 0.334 | N | 0.383 | neutral | N | 0.488630324 | None | None | N |
S/P | 0.8127 | likely_pathogenic | 0.8235 | pathogenic | -0.35 | Destabilizing | 0.826 | D | 0.355 | neutral | None | None | None | None | N |
S/Q | 0.775 | likely_pathogenic | 0.8465 | pathogenic | -0.359 | Destabilizing | 0.826 | D | 0.325 | neutral | None | None | None | None | N |
S/R | 0.8627 | likely_pathogenic | 0.9126 | pathogenic | -0.212 | Destabilizing | 0.781 | D | 0.353 | neutral | N | 0.466838291 | None | None | N |
S/T | 0.1293 | likely_benign | 0.1532 | benign | -0.311 | Destabilizing | 0.334 | N | 0.364 | neutral | N | 0.50046347 | None | None | N |
S/V | 0.4829 | ambiguous | 0.5722 | pathogenic | -0.35 | Destabilizing | 0.826 | D | 0.471 | neutral | None | None | None | None | N |
S/W | 0.7218 | likely_pathogenic | 0.7487 | pathogenic | -1.122 | Destabilizing | 0.982 | D | 0.634 | neutral | None | None | None | None | N |
S/Y | 0.567 | likely_pathogenic | 0.6252 | pathogenic | -0.828 | Destabilizing | 0.935 | D | 0.504 | neutral | 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.