Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 14301 | 43126;43127;43128 | chr2:178633458;178633457;178633456 | chr2:179498185;179498184;179498183 |
| N2AB | 12660 | 38203;38204;38205 | chr2:178633458;178633457;178633456 | chr2:179498185;179498184;179498183 |
| N2A | 11733 | 35422;35423;35424 | chr2:178633458;178633457;178633456 | chr2:179498185;179498184;179498183 |
| N2B | 5236 | 15931;15932;15933 | chr2:178633458;178633457;178633456 | chr2:179498185;179498184;179498183 |
| Novex-1 | 5361 | 16306;16307;16308 | chr2:178633458;178633457;178633456 | chr2:179498185;179498184;179498183 |
| Novex-2 | 5428 | 16507;16508;16509 | chr2:178633458;178633457;178633456 | chr2:179498185;179498184;179498183 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/S | None | None | 1.0 | D | 0.821 | 0.695 | 0.803415754643 | gnomAD-4.0.0 | 1.36882E-06 | None | None | disulfide | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79923E-06 | 0 | 0 |
| C/Y | rs777838603  |
-1.548 | 1.0 | D | 0.891 | 0.558 | 0.819239731598 | gnomAD-2.1.1 | 4.02E-06 | None | None | disulfide | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.88E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/A | 0.8635 | likely_pathogenic | 0.8217 | pathogenic | -1.218 | Destabilizing | 0.998 | D | 0.697 | prob.neutral | None | None | disulfide | None | N |
| C/D | 0.9991 | likely_pathogenic | 0.9989 | pathogenic | -1.591 | Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | disulfide | None | N |
| C/E | 0.9994 | likely_pathogenic | 0.9993 | pathogenic | -1.332 | Destabilizing | 1.0 | D | 0.891 | deleterious | None | None | disulfide | None | N |
| C/F | 0.9041 | likely_pathogenic | 0.8825 | pathogenic | -0.67 | Destabilizing | 1.0 | D | 0.879 | deleterious | D | 0.684867055 | disulfide | None | N |
| C/G | 0.8161 | likely_pathogenic | 0.806 | pathogenic | -1.567 | Destabilizing | 1.0 | D | 0.875 | deleterious | D | 0.800125769 | disulfide | None | N |
| C/H | 0.9976 | likely_pathogenic | 0.9971 | pathogenic | -1.84 | Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | disulfide | None | N |
| C/I | 0.8937 | likely_pathogenic | 0.9053 | pathogenic | -0.267 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | disulfide | None | N |
| C/K | 0.9997 | likely_pathogenic | 0.9996 | pathogenic | -0.839 | Destabilizing | 1.0 | D | 0.88 | deleterious | None | None | disulfide | None | N |
| C/L | 0.8144 | likely_pathogenic | 0.8412 | pathogenic | -0.267 | Destabilizing | 0.999 | D | 0.766 | deleterious | None | None | disulfide | None | N |
| C/M | 0.9428 | likely_pathogenic | 0.9456 | pathogenic | 0.066 | Stabilizing | 1.0 | D | 0.833 | deleterious | None | None | disulfide | None | N |
| C/N | 0.9954 | likely_pathogenic | 0.9937 | pathogenic | -1.6 | Destabilizing | 1.0 | D | 0.891 | deleterious | None | None | disulfide | None | N |
| C/P | 0.999 | likely_pathogenic | 0.9988 | pathogenic | -0.564 | Destabilizing | 1.0 | D | 0.889 | deleterious | None | None | disulfide | None | N |
| C/Q | 0.9984 | likely_pathogenic | 0.998 | pathogenic | -1.034 | Destabilizing | 1.0 | D | 0.897 | deleterious | None | None | disulfide | None | N |
| C/R | 0.9958 | likely_pathogenic | 0.9955 | pathogenic | -1.427 | Destabilizing | 1.0 | D | 0.894 | deleterious | D | 0.800125769 | disulfide | None | N |
| C/S | 0.9431 | likely_pathogenic | 0.9178 | pathogenic | -1.784 | Destabilizing | 1.0 | D | 0.821 | deleterious | D | 0.800125769 | disulfide | None | N |
| C/T | 0.9565 | likely_pathogenic | 0.9418 | pathogenic | -1.352 | Destabilizing | 1.0 | D | 0.826 | deleterious | None | None | disulfide | None | N |
| C/V | 0.7977 | likely_pathogenic | 0.8 | pathogenic | -0.564 | Destabilizing | 0.999 | D | 0.8 | deleterious | None | None | disulfide | None | N |
| C/W | 0.9911 | likely_pathogenic | 0.9913 | pathogenic | -1.198 | Destabilizing | 1.0 | D | 0.865 | deleterious | D | 0.800125769 | disulfide | None | N |
| C/Y | 0.9792 | likely_pathogenic | 0.9756 | pathogenic | -0.912 | Destabilizing | 1.0 | D | 0.891 | deleterious | D | 0.746459092 | disulfide | 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.