Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 26964 | 81115;81116;81117 | chr2:178565242;178565241;178565240 | chr2:179429969;179429968;179429967 |
| N2AB | 25323 | 76192;76193;76194 | chr2:178565242;178565241;178565240 | chr2:179429969;179429968;179429967 |
| N2A | 24396 | 73411;73412;73413 | chr2:178565242;178565241;178565240 | chr2:179429969;179429968;179429967 |
| N2B | 17899 | 53920;53921;53922 | chr2:178565242;178565241;178565240 | chr2:179429969;179429968;179429967 |
| Novex-1 | 18024 | 54295;54296;54297 | chr2:178565242;178565241;178565240 | chr2:179429969;179429968;179429967 |
| Novex-2 | 18091 | 54496;54497;54498 | chr2:178565242;178565241;178565240 | chr2:179429969;179429968;179429967 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
Reported SAVs
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/D | rs886055242  |
None | None | N | 0.123 | 0.063 | 0.119812018005 | gnomAD-4.0.0 | 6.84281E-07 | None | None | None | None | N | None | 2.989E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| N/H | None | None | 0.47 | N | 0.424 | 0.071 | 0.194818534648 | gnomAD-4.0.0 | 6.84281E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99528E-07 | 0 | 0 |
| N/Y | None | None | 0.73 | N | 0.6 | 0.125 | 0.38225645794 | gnomAD-4.0.0 | 1.36856E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79906E-06 | 0 | 0 |
Saturation Mutagenesis
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/A | 0.1265 | likely_benign | 0.1258 | benign | -0.605 | Destabilizing | None | N | 0.257 | neutral | None | None | None | None | N |
| N/C | 0.1585 | likely_benign | 0.1597 | benign | 0.253 | Stabilizing | 0.54 | D | 0.535 | neutral | None | None | None | None | N |
| N/D | 0.0901 | likely_benign | 0.0915 | benign | -0.196 | Destabilizing | None | N | 0.123 | neutral | N | 0.41255735 | None | None | N |
| N/E | 0.1632 | likely_benign | 0.1649 | benign | -0.165 | Destabilizing | None | N | 0.125 | neutral | None | None | None | None | N |
| N/F | 0.2557 | likely_benign | 0.2593 | benign | -0.603 | Destabilizing | 0.54 | D | 0.603 | neutral | None | None | None | None | N |
| N/G | 0.1921 | likely_benign | 0.194 | benign | -0.883 | Destabilizing | 0.015 | N | 0.243 | neutral | None | None | None | None | N |
| N/H | 0.0737 | likely_benign | 0.0786 | benign | -0.81 | Destabilizing | 0.47 | N | 0.424 | neutral | N | 0.463698246 | None | None | N |
| N/I | 0.0948 | likely_benign | 0.0961 | benign | 0.07 | Stabilizing | 0.111 | N | 0.615 | neutral | N | 0.436666361 | None | None | N |
| N/K | 0.161 | likely_benign | 0.1594 | benign | -0.144 | Destabilizing | 0.025 | N | 0.263 | neutral | N | 0.46425282 | None | None | N |
| N/L | 0.1294 | likely_benign | 0.1312 | benign | 0.07 | Stabilizing | 0.033 | N | 0.485 | neutral | None | None | None | None | N |
| N/M | 0.1653 | likely_benign | 0.1669 | benign | 0.529 | Stabilizing | 0.54 | D | 0.547 | neutral | None | None | None | None | N |
| N/P | 0.2687 | likely_benign | 0.2836 | benign | -0.125 | Destabilizing | 0.251 | N | 0.546 | neutral | None | None | None | None | N |
| N/Q | 0.1588 | likely_benign | 0.159 | benign | -0.648 | Destabilizing | 0.002 | N | 0.156 | neutral | None | None | None | None | N |
| N/R | 0.2006 | likely_benign | 0.1968 | benign | -0.142 | Destabilizing | 0.033 | N | 0.333 | neutral | None | None | None | None | N |
| N/S | 0.074 | likely_benign | 0.0724 | benign | -0.53 | Destabilizing | 0.001 | N | 0.157 | neutral | N | 0.385042675 | None | None | N |
| N/T | 0.0719 | likely_benign | 0.0708 | benign | -0.325 | Destabilizing | None | N | 0.155 | neutral | N | 0.404956587 | None | None | N |
| N/V | 0.1014 | likely_benign | 0.1005 | benign | -0.125 | Destabilizing | 0.033 | N | 0.473 | neutral | None | None | None | None | N |
| N/W | 0.5525 | ambiguous | 0.5577 | ambiguous | -0.446 | Destabilizing | 0.931 | D | 0.552 | neutral | None | None | None | None | N |
| N/Y | 0.0918 | likely_benign | 0.0967 | benign | -0.236 | Destabilizing | 0.73 | D | 0.6 | neutral | N | 0.487652541 | 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.