Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 22060 | 66403;66404;66405 | chr2:178582191;178582190;178582189 | chr2:179446918;179446917;179446916 |
| N2AB | 20419 | 61480;61481;61482 | chr2:178582191;178582190;178582189 | chr2:179446918;179446917;179446916 |
| N2A | 19492 | 58699;58700;58701 | chr2:178582191;178582190;178582189 | chr2:179446918;179446917;179446916 |
| N2B | 12995 | 39208;39209;39210 | chr2:178582191;178582190;178582189 | chr2:179446918;179446917;179446916 |
| Novex-1 | 13120 | 39583;39584;39585 | chr2:178582191;178582190;178582189 | chr2:179446918;179446917;179446916 |
| Novex-2 | 13187 | 39784;39785;39786 | chr2:178582191;178582190;178582189 | chr2:179446918;179446917;179446916 |
| 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/G | rs777203619  |
None | 0.989 | N | 0.591 | 0.447 | None | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| D/G | rs777203619 |
None | 0.989 | N | 0.591 | 0.447 | None | gnomAD-4.0.0 | 1.7985E-05 | None | None | None | None | N | None | 1.33654E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 2.37413E-05 | 0 | 0 |
| D/Y | rs1201131904 |
None | 1.0 | N | 0.747 | 0.418 | 0.498767733754 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 6.56E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| D/Y | rs1201131904 |
None | 1.0 | N | 0.747 | 0.418 | 0.498767733754 | gnomAD-4.0.0 | 6.57877E-06 | None | None | None | None | N | None | 0 | 6.56254E-05 | None | 0 | 0 | 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 | 0.2571 | likely_benign | 0.2272 | benign | -0.253 | Destabilizing | 0.978 | D | 0.589 | neutral | N | 0.462625237 | None | None | N |
| D/C | 0.7841 | likely_pathogenic | 0.754 | pathogenic | -0.094 | Destabilizing | 1.0 | D | 0.74 | deleterious | None | None | None | None | N |
| D/E | 0.1705 | likely_benign | 0.1632 | benign | -0.661 | Destabilizing | 0.198 | N | 0.177 | neutral | N | 0.465526964 | None | None | N |
| D/F | 0.7272 | likely_pathogenic | 0.6763 | pathogenic | -0.232 | Destabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | N |
| D/G | 0.3285 | likely_benign | 0.2913 | benign | -0.532 | Destabilizing | 0.989 | D | 0.591 | neutral | N | 0.488710468 | None | None | N |
| D/H | 0.5279 | ambiguous | 0.4455 | ambiguous | -0.621 | Destabilizing | 1.0 | D | 0.676 | prob.neutral | N | 0.466614936 | None | None | N |
| D/I | 0.4947 | ambiguous | 0.4391 | ambiguous | 0.454 | Stabilizing | 0.999 | D | 0.757 | deleterious | None | None | None | None | N |
| D/K | 0.6076 | likely_pathogenic | 0.5657 | pathogenic | -0.415 | Destabilizing | 0.983 | D | 0.593 | neutral | None | None | None | None | N |
| D/L | 0.4464 | ambiguous | 0.411 | ambiguous | 0.454 | Stabilizing | 0.998 | D | 0.737 | prob.delet. | None | None | None | None | N |
| D/M | 0.721 | likely_pathogenic | 0.6935 | pathogenic | 0.734 | Stabilizing | 1.0 | D | 0.743 | deleterious | None | None | None | None | N |
| D/N | 0.1848 | likely_benign | 0.1661 | benign | -0.528 | Destabilizing | 0.989 | D | 0.545 | neutral | N | 0.496657948 | None | None | N |
| D/P | 0.744 | likely_pathogenic | 0.6995 | pathogenic | 0.243 | Stabilizing | 0.999 | D | 0.691 | prob.neutral | None | None | None | None | N |
| D/Q | 0.4667 | ambiguous | 0.4194 | ambiguous | -0.44 | Destabilizing | 0.995 | D | 0.617 | neutral | None | None | None | None | N |
| D/R | 0.7171 | likely_pathogenic | 0.6444 | pathogenic | -0.326 | Destabilizing | 0.995 | D | 0.702 | prob.neutral | None | None | None | None | N |
| D/S | 0.1826 | likely_benign | 0.1602 | benign | -0.717 | Destabilizing | 0.983 | D | 0.503 | neutral | None | None | None | None | N |
| D/T | 0.348 | ambiguous | 0.3142 | benign | -0.516 | Destabilizing | 0.998 | D | 0.655 | neutral | None | None | None | None | N |
| D/V | 0.3489 | ambiguous | 0.2955 | benign | 0.243 | Stabilizing | 0.997 | D | 0.737 | prob.delet. | N | 0.482944764 | None | None | N |
| D/W | 0.9518 | likely_pathogenic | 0.9399 | pathogenic | -0.221 | Destabilizing | 1.0 | D | 0.727 | prob.delet. | None | None | None | None | N |
| D/Y | 0.3969 | ambiguous | 0.3258 | benign | -0.064 | Destabilizing | 1.0 | D | 0.747 | deleterious | N | 0.484212212 | 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.