Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
---|---|---|---|---|
IC | 5455 | 16588;16589;16590 | chr2:178732698;178732697;178732696 | chr2:179597425;179597424;179597423 |
N2AB | 5138 | 15637;15638;15639 | chr2:178732698;178732697;178732696 | chr2:179597425;179597424;179597423 |
N2A | 4211 | 12856;12857;12858 | chr2:178732698;178732697;178732696 | chr2:179597425;179597424;179597423 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
K/E | None | None | 0.026 | N | 0.196 | 0.114 | 0.178374595973 | gnomAD-4.0.0 | 3.26803E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 6.1954E-05 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
K/A | 0.2193 | likely_benign | 0.2235 | benign | -0.361 | Destabilizing | 0.919 | D | 0.573 | neutral | None | None | None | None | N |
K/C | 0.6716 | likely_pathogenic | 0.6586 | pathogenic | -0.4 | Destabilizing | 0.999 | D | 0.703 | prob.neutral | None | None | None | None | N |
K/D | 0.5254 | ambiguous | 0.5457 | ambiguous | 0.478 | Stabilizing | 0.851 | D | 0.557 | neutral | None | None | None | None | N |
K/E | 0.1208 | likely_benign | 0.1319 | benign | 0.534 | Stabilizing | 0.026 | N | 0.196 | neutral | N | 0.46196101 | None | None | N |
K/F | 0.595 | likely_pathogenic | 0.6053 | pathogenic | -0.402 | Destabilizing | 0.996 | D | 0.687 | prob.neutral | None | None | None | None | N |
K/G | 0.3651 | ambiguous | 0.3592 | ambiguous | -0.626 | Destabilizing | 0.919 | D | 0.589 | neutral | None | None | None | None | N |
K/H | 0.3264 | likely_benign | 0.3234 | benign | -0.959 | Destabilizing | 0.988 | D | 0.639 | neutral | None | None | None | None | N |
K/I | 0.2138 | likely_benign | 0.233 | benign | 0.28 | Stabilizing | 0.968 | D | 0.689 | prob.neutral | N | 0.499692679 | None | None | N |
K/L | 0.2241 | likely_benign | 0.2307 | benign | 0.28 | Stabilizing | 0.919 | D | 0.607 | neutral | None | None | None | None | N |
K/M | 0.1544 | likely_benign | 0.1625 | benign | 0.13 | Stabilizing | 0.999 | D | 0.633 | neutral | None | None | None | None | N |
K/N | 0.3688 | ambiguous | 0.3881 | ambiguous | 0.097 | Stabilizing | 0.103 | N | 0.205 | neutral | N | 0.505346428 | None | None | N |
K/P | 0.3363 | likely_benign | 0.3273 | benign | 0.096 | Stabilizing | 0.988 | D | 0.636 | neutral | None | None | None | None | N |
K/Q | 0.1127 | likely_benign | 0.1126 | benign | -0.026 | Destabilizing | 0.938 | D | 0.582 | neutral | N | 0.466502825 | None | None | N |
K/R | 0.0855 | likely_benign | 0.0828 | benign | -0.165 | Destabilizing | 0.896 | D | 0.528 | neutral | N | 0.482856357 | None | None | N |
K/S | 0.3095 | likely_benign | 0.3168 | benign | -0.586 | Destabilizing | 0.851 | D | 0.519 | neutral | None | None | None | None | N |
K/T | 0.133 | likely_benign | 0.1355 | benign | -0.343 | Destabilizing | 0.103 | N | 0.263 | neutral | N | 0.471890002 | None | None | N |
K/V | 0.1973 | likely_benign | 0.2092 | benign | 0.096 | Stabilizing | 0.919 | D | 0.607 | neutral | None | None | None | None | N |
K/W | 0.7223 | likely_pathogenic | 0.7144 | pathogenic | -0.303 | Destabilizing | 0.999 | D | 0.731 | prob.delet. | None | None | None | None | N |
K/Y | 0.4925 | ambiguous | 0.5046 | ambiguous | 0.027 | Stabilizing | 0.996 | D | 0.687 | prob.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.