Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 23543 | 70852;70853;70854 | chr2:178575505;178575504;178575503 | chr2:179440232;179440231;179440230 |
| N2AB | 21902 | 65929;65930;65931 | chr2:178575505;178575504;178575503 | chr2:179440232;179440231;179440230 |
| N2A | 20975 | 63148;63149;63150 | chr2:178575505;178575504;178575503 | chr2:179440232;179440231;179440230 |
| N2B | 14478 | 43657;43658;43659 | chr2:178575505;178575504;178575503 | chr2:179440232;179440231;179440230 |
| Novex-1 | 14603 | 44032;44033;44034 | chr2:178575505;178575504;178575503 | chr2:179440232;179440231;179440230 |
| Novex-2 | 14670 | 44233;44234;44235 | chr2:178575505;178575504;178575503 | chr2:179440232;179440231;179440230 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/E | rs376809423  |
0.024 | 0.994 | N | 0.388 | 0.271 | 0.193865811164 | gnomAD-4.0.0 | 3.42122E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.49769E-06 | 0 | 0 |
| D/N | None | None | 1.0 | N | 0.613 | 0.329 | 0.241664281697 | gnomAD-4.0.0 | 1.59149E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.77269E-05 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.7475 | likely_pathogenic | 0.6459 | pathogenic | -0.366 | Destabilizing | 1.0 | D | 0.68 | prob.neutral | N | 0.480078517 | None | None | N |
| D/C | 0.9727 | likely_pathogenic | 0.9601 | pathogenic | 0.024 | Stabilizing | 1.0 | D | 0.613 | neutral | None | None | None | None | N |
| D/E | 0.5686 | likely_pathogenic | 0.4722 | ambiguous | -0.439 | Destabilizing | 0.994 | D | 0.388 | neutral | N | 0.480403203 | None | None | N |
| D/F | 0.9659 | likely_pathogenic | 0.949 | pathogenic | -0.282 | Destabilizing | 1.0 | D | 0.635 | neutral | None | None | None | None | N |
| D/G | 0.6744 | likely_pathogenic | 0.5576 | ambiguous | -0.607 | Destabilizing | 1.0 | D | 0.685 | prob.neutral | N | 0.484219574 | None | None | N |
| D/H | 0.8743 | likely_pathogenic | 0.8169 | pathogenic | -0.352 | Destabilizing | 1.0 | D | 0.579 | neutral | N | 0.496287122 | None | None | N |
| D/I | 0.9488 | likely_pathogenic | 0.9243 | pathogenic | 0.23 | Stabilizing | 1.0 | D | 0.671 | neutral | None | None | None | None | N |
| D/K | 0.9522 | likely_pathogenic | 0.9233 | pathogenic | 0.131 | Stabilizing | 1.0 | D | 0.709 | prob.delet. | None | None | None | None | N |
| D/L | 0.9231 | likely_pathogenic | 0.8895 | pathogenic | 0.23 | Stabilizing | 1.0 | D | 0.703 | prob.neutral | None | None | None | None | N |
| D/M | 0.9699 | likely_pathogenic | 0.9552 | pathogenic | 0.49 | Stabilizing | 1.0 | D | 0.611 | neutral | None | None | None | None | N |
| D/N | 0.4303 | ambiguous | 0.3398 | benign | -0.182 | Destabilizing | 1.0 | D | 0.613 | neutral | N | 0.467886064 | None | None | N |
| D/P | 0.9973 | likely_pathogenic | 0.9951 | pathogenic | 0.055 | Stabilizing | 0.998 | D | 0.687 | prob.neutral | None | None | None | None | N |
| D/Q | 0.9091 | likely_pathogenic | 0.8603 | pathogenic | -0.13 | Destabilizing | 1.0 | D | 0.655 | neutral | None | None | None | None | N |
| D/R | 0.9453 | likely_pathogenic | 0.9188 | pathogenic | 0.253 | Stabilizing | 1.0 | D | 0.649 | neutral | None | None | None | None | N |
| D/S | 0.6393 | likely_pathogenic | 0.5385 | ambiguous | -0.312 | Destabilizing | 1.0 | D | 0.643 | neutral | None | None | None | None | N |
| D/T | 0.8562 | likely_pathogenic | 0.7896 | pathogenic | -0.125 | Destabilizing | 1.0 | D | 0.721 | prob.delet. | None | None | None | None | N |
| D/V | 0.8412 | likely_pathogenic | 0.7808 | pathogenic | 0.055 | Stabilizing | 1.0 | D | 0.706 | prob.neutral | N | 0.501109288 | None | None | N |
| D/W | 0.989 | likely_pathogenic | 0.9849 | pathogenic | -0.147 | Destabilizing | 1.0 | D | 0.622 | neutral | None | None | None | None | N |
| D/Y | 0.7913 | likely_pathogenic | 0.7236 | pathogenic | -0.049 | Destabilizing | 1.0 | D | 0.612 | neutral | N | 0.52048099 | 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.