Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
---|---|---|---|---|
IC | 9964 | 30115;30116;30117 | chr2:178704582;178704581;178704580 | chr2:179569309;179569308;179569307 |
N2AB | 9647 | 29164;29165;29166 | chr2:178704582;178704581;178704580 | chr2:179569309;179569308;179569307 |
N2A | 8720 | 26383;26384;26385 | chr2:178704582;178704581;178704580 | chr2:179569309;179569308;179569307 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Q/P | None | None | 0.999 | None | 0.467 | 0.587 | 0.52674250279 | gnomAD-4.0.0 | 1.59238E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.88359E-05 | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Q/A | 0.3248 | likely_benign | 0.3551 | ambiguous | -0.293 | Destabilizing | 0.964 | D | 0.489 | neutral | None | None | None | None | N |
Q/C | 0.7599 | likely_pathogenic | 0.7778 | pathogenic | 0.178 | Stabilizing | 1.0 | D | 0.695 | prob.neutral | None | None | None | None | N |
Q/D | 0.4889 | ambiguous | 0.5018 | ambiguous | -1.235 | Destabilizing | 0.993 | D | 0.419 | neutral | None | None | None | None | N |
Q/E | 0.1092 | likely_benign | 0.1066 | benign | -1.153 | Destabilizing | 0.977 | D | 0.419 | neutral | None | None | None | None | N |
Q/F | 0.7756 | likely_pathogenic | 0.7765 | pathogenic | -0.185 | Destabilizing | 0.999 | D | 0.677 | prob.neutral | None | None | None | None | N |
Q/G | 0.4195 | ambiguous | 0.4186 | ambiguous | -0.639 | Destabilizing | 0.993 | D | 0.503 | neutral | None | None | None | None | N |
Q/H | 0.2763 | likely_benign | 0.2817 | benign | -0.815 | Destabilizing | 0.999 | D | 0.43 | neutral | None | None | None | None | N |
Q/I | 0.5122 | ambiguous | 0.5556 | ambiguous | 0.578 | Stabilizing | 0.996 | D | 0.667 | neutral | None | None | None | None | N |
Q/K | 0.1174 | likely_benign | 0.1213 | benign | -0.375 | Destabilizing | 0.99 | D | 0.462 | neutral | None | None | None | None | N |
Q/L | 0.1906 | likely_benign | 0.1901 | benign | 0.578 | Stabilizing | 0.98 | D | 0.501 | neutral | None | None | None | None | N |
Q/M | 0.4894 | ambiguous | 0.5071 | ambiguous | 1.161 | Stabilizing | 0.999 | D | 0.43 | neutral | None | None | None | None | N |
Q/N | 0.3539 | ambiguous | 0.3547 | ambiguous | -0.954 | Destabilizing | 0.993 | D | 0.413 | neutral | None | None | None | None | N |
Q/P | 0.5981 | likely_pathogenic | 0.5834 | pathogenic | 0.32 | Stabilizing | 0.999 | D | 0.467 | neutral | None | None | None | None | N |
Q/R | 0.1379 | likely_benign | 0.1389 | benign | -0.336 | Destabilizing | 0.99 | D | 0.473 | neutral | None | None | None | None | N |
Q/S | 0.3177 | likely_benign | 0.3295 | benign | -0.902 | Destabilizing | 0.971 | D | 0.439 | neutral | None | None | None | None | N |
Q/T | 0.2798 | likely_benign | 0.2919 | benign | -0.645 | Destabilizing | 0.469 | N | 0.23 | neutral | None | None | None | None | N |
Q/V | 0.3663 | ambiguous | 0.4063 | ambiguous | 0.32 | Stabilizing | 0.985 | D | 0.501 | neutral | None | None | None | None | N |
Q/W | 0.7835 | likely_pathogenic | 0.7793 | pathogenic | -0.228 | Destabilizing | 1.0 | D | 0.697 | prob.neutral | None | None | None | None | N |
Q/Y | 0.6456 | likely_pathogenic | 0.6464 | pathogenic | 0.086 | Stabilizing | 0.999 | D | 0.509 | 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.