Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
---|---|---|---|---|
IC | 35476 | 106651;106652;106653 | chr2:178530065;178530064;178530063 | chr2:179394792;179394791;179394790 |
N2AB | 33835 | 101728;101729;101730 | chr2:178530065;178530064;178530063 | chr2:179394792;179394791;179394790 |
N2A | 32908 | 98947;98948;98949 | chr2:178530065;178530064;178530063 | chr2:179394792;179394791;179394790 |
N2B | 26411 | 79456;79457;79458 | chr2:178530065;178530064;178530063 | chr2:179394792;179394791;179394790 |
Novex-1 | 26536 | 79831;79832;79833 | chr2:178530065;178530064;178530063 | chr2:179394792;179394791;179394790 |
Novex-2 | 26603 | 80032;80033;80034 | chr2:178530065;178530064;178530063 | chr2:179394792;179394791;179394790 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
F/L | None | None | None | N | 0.166 | 0.134 | 0.287603790349 | gnomAD-4.0.0 | 1.59697E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86261E-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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
F/A | 0.1608 | likely_benign | 0.1577 | benign | -2.338 | Highly Destabilizing | None | N | 0.424 | neutral | None | None | None | None | N |
F/C | 0.1625 | likely_benign | 0.1552 | benign | -1.029 | Destabilizing | 0.043 | N | 0.591 | neutral | N | 0.480841212 | None | None | N |
F/D | 0.3255 | likely_benign | 0.3372 | benign | -1.298 | Destabilizing | 0.003 | N | 0.469 | neutral | None | None | None | None | N |
F/E | 0.3739 | ambiguous | 0.3755 | ambiguous | -1.207 | Destabilizing | 0.003 | N | 0.424 | neutral | None | None | None | None | N |
F/G | 0.3369 | likely_benign | 0.3427 | ambiguous | -2.684 | Highly Destabilizing | 0.001 | N | 0.418 | neutral | None | None | None | None | N |
F/H | 0.1729 | likely_benign | 0.1687 | benign | -0.951 | Destabilizing | None | N | 0.252 | neutral | None | None | None | None | N |
F/I | 0.0561 | likely_benign | 0.0563 | benign | -1.283 | Destabilizing | None | N | 0.148 | neutral | N | 0.43048975 | None | None | N |
F/K | 0.3492 | ambiguous | 0.358 | ambiguous | -1.079 | Destabilizing | 0.003 | N | 0.434 | neutral | None | None | None | None | N |
F/L | 0.1447 | likely_benign | 0.1414 | benign | -1.283 | Destabilizing | None | N | 0.166 | neutral | N | 0.438493158 | None | None | N |
F/M | 0.1553 | likely_benign | 0.1554 | benign | -0.911 | Destabilizing | 0.004 | N | 0.437 | neutral | None | None | None | None | N |
F/N | 0.1885 | likely_benign | 0.1916 | benign | -1.088 | Destabilizing | 0.002 | N | 0.476 | neutral | None | None | None | None | N |
F/P | 0.8236 | likely_pathogenic | 0.8337 | pathogenic | -1.631 | Destabilizing | None | N | 0.483 | neutral | None | None | None | None | N |
F/Q | 0.2353 | likely_benign | 0.2314 | benign | -1.221 | Destabilizing | 0.008 | N | 0.604 | neutral | None | None | None | None | N |
F/R | 0.2153 | likely_benign | 0.2197 | benign | -0.402 | Destabilizing | 0.003 | N | 0.528 | neutral | None | None | None | None | N |
F/S | 0.1035 | likely_benign | 0.1024 | benign | -1.889 | Destabilizing | 0.001 | N | 0.429 | neutral | N | 0.359568227 | None | None | N |
F/T | 0.1223 | likely_benign | 0.12 | benign | -1.708 | Destabilizing | None | N | 0.357 | neutral | None | None | None | None | N |
F/V | 0.0646 | likely_benign | 0.0638 | benign | -1.631 | Destabilizing | None | N | 0.25 | neutral | N | 0.425025215 | None | None | N |
F/W | 0.2031 | likely_benign | 0.2045 | benign | -0.387 | Destabilizing | 0.056 | N | 0.429 | neutral | None | None | None | None | N |
F/Y | 0.0984 | likely_benign | 0.0998 | benign | -0.601 | Destabilizing | None | N | 0.135 | neutral | N | 0.466757194 | 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.