Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 19591 | 58996;58997;58998 | chr2:178593437;178593436;178593435 | chr2:179458164;179458163;179458162 |
| N2AB | 17950 | 54073;54074;54075 | chr2:178593437;178593436;178593435 | chr2:179458164;179458163;179458162 |
| N2A | 17023 | 51292;51293;51294 | chr2:178593437;178593436;178593435 | chr2:179458164;179458163;179458162 |
| N2B | 10526 | 31801;31802;31803 | chr2:178593437;178593436;178593435 | chr2:179458164;179458163;179458162 |
| Novex-1 | 10651 | 32176;32177;32178 | chr2:178593437;178593436;178593435 | chr2:179458164;179458163;179458162 |
| Novex-2 | 10718 | 32377;32378;32379 | chr2:178593437;178593436;178593435 | chr2:179458164;179458163;179458162 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/I | rs776808469  |
-0.545 | 0.014 | N | 0.205 | 0.074 | 0.261217442401 | gnomAD-2.1.1 | 4.43E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.28839E-04 | None | 0 | 0 | 1.66223E-04 |
| V/I | rs776808469 |
-0.545 | 0.014 | N | 0.205 | 0.074 | 0.261217442401 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.07039E-04 | 0 |
| V/I | rs776808469 |
-0.545 | 0.014 | N | 0.205 | 0.074 | 0.261217442401 | gnomAD-4.0.0 | 2.54215E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 4.40364E-04 | 1.6019E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.4968 | ambiguous | 0.4721 | ambiguous | -1.401 | Destabilizing | 0.822 | D | 0.447 | neutral | N | 0.516809507 | None | None | N |
| V/C | 0.8293 | likely_pathogenic | 0.8476 | pathogenic | -1.387 | Destabilizing | 0.998 | D | 0.715 | prob.delet. | None | None | None | None | N |
| V/D | 0.8935 | likely_pathogenic | 0.8785 | pathogenic | -1.715 | Destabilizing | 0.99 | D | 0.811 | deleterious | N | 0.51879915 | None | None | N |
| V/E | 0.77 | likely_pathogenic | 0.7508 | pathogenic | -1.734 | Destabilizing | 0.993 | D | 0.761 | deleterious | None | None | None | None | N |
| V/F | 0.5095 | ambiguous | 0.4873 | ambiguous | -1.396 | Destabilizing | 0.942 | D | 0.741 | deleterious | N | 0.494720641 | None | None | N |
| V/G | 0.6428 | likely_pathogenic | 0.5977 | pathogenic | -1.664 | Destabilizing | 0.971 | D | 0.8 | deleterious | N | 0.505823457 | None | None | N |
| V/H | 0.9116 | likely_pathogenic | 0.9116 | pathogenic | -1.239 | Destabilizing | 0.998 | D | 0.809 | deleterious | None | None | None | None | N |
| V/I | 0.075 | likely_benign | 0.0825 | benign | -0.781 | Destabilizing | 0.014 | N | 0.205 | neutral | N | 0.462126874 | None | None | N |
| V/K | 0.7762 | likely_pathogenic | 0.7783 | pathogenic | -1.092 | Destabilizing | 0.978 | D | 0.761 | deleterious | None | None | None | None | N |
| V/L | 0.4777 | ambiguous | 0.4919 | ambiguous | -0.781 | Destabilizing | 0.247 | N | 0.306 | neutral | N | 0.472422423 | None | None | N |
| V/M | 0.3293 | likely_benign | 0.3281 | benign | -0.704 | Destabilizing | 0.956 | D | 0.655 | neutral | None | None | None | None | N |
| V/N | 0.74 | likely_pathogenic | 0.7442 | pathogenic | -1.009 | Destabilizing | 0.993 | D | 0.811 | deleterious | None | None | None | None | N |
| V/P | 0.8723 | likely_pathogenic | 0.8772 | pathogenic | -0.956 | Destabilizing | 0.993 | D | 0.779 | deleterious | None | None | None | None | N |
| V/Q | 0.7648 | likely_pathogenic | 0.7626 | pathogenic | -1.263 | Destabilizing | 0.993 | D | 0.775 | deleterious | None | None | None | None | N |
| V/R | 0.7717 | likely_pathogenic | 0.7623 | pathogenic | -0.609 | Destabilizing | 0.993 | D | 0.808 | deleterious | None | None | None | None | N |
| V/S | 0.6545 | likely_pathogenic | 0.6457 | pathogenic | -1.489 | Destabilizing | 0.978 | D | 0.761 | deleterious | None | None | None | None | N |
| V/T | 0.3916 | ambiguous | 0.4121 | ambiguous | -1.405 | Destabilizing | 0.86 | D | 0.528 | neutral | None | None | None | None | N |
| V/W | 0.9538 | likely_pathogenic | 0.9488 | pathogenic | -1.542 | Destabilizing | 0.998 | D | 0.808 | deleterious | None | None | None | None | N |
| V/Y | 0.8402 | likely_pathogenic | 0.8252 | pathogenic | -1.2 | Destabilizing | 0.978 | D | 0.761 | deleterious | 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.