Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32511 | 97756;97757;97758 | chr2:178541546;178541545;178541544 | chr2:179406273;179406272;179406271 |
| N2AB | 30870 | 92833;92834;92835 | chr2:178541546;178541545;178541544 | chr2:179406273;179406272;179406271 |
| N2A | 29943 | 90052;90053;90054 | chr2:178541546;178541545;178541544 | chr2:179406273;179406272;179406271 |
| N2B | 23446 | 70561;70562;70563 | chr2:178541546;178541545;178541544 | chr2:179406273;179406272;179406271 |
| Novex-1 | 23571 | 70936;70937;70938 | chr2:178541546;178541545;178541544 | chr2:179406273;179406272;179406271 |
| Novex-2 | 23638 | 71137;71138;71139 | chr2:178541546;178541545;178541544 | chr2:179406273;179406272;179406271 |
| 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 | rs752264462  |
-0.698 | 0.014 | N | 0.169 | 0.087 | 0.218112801441 | gnomAD-2.1.1 | 8.13E-06 | None | None | None | None | N | None | 0 | 2.92E-05 | None | 0 | 5.64E-05 | None | 0 | None | 0 | 0 | 0 |
| V/I | rs752264462 |
-0.698 | 0.014 | N | 0.169 | 0.087 | 0.218112801441 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| V/I | rs752264462 |
-0.698 | 0.014 | N | 0.169 | 0.087 | 0.218112801441 | gnomAD-4.0.0 | 3.10153E-06 | None | None | None | None | N | None | 0 | 3.3399E-05 | None | 0 | 2.23404E-05 | None | 0 | 0 | 1.69639E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.18 | likely_benign | 0.1768 | benign | -1.12 | Destabilizing | 0.025 | N | 0.152 | neutral | N | 0.51142233 | None | None | N |
| V/C | 0.6242 | likely_pathogenic | 0.6128 | pathogenic | -1.211 | Destabilizing | 0.998 | D | 0.552 | neutral | None | None | None | None | N |
| V/D | 0.6009 | likely_pathogenic | 0.634 | pathogenic | -0.831 | Destabilizing | 0.97 | D | 0.697 | prob.neutral | N | 0.501024063 | None | None | N |
| V/E | 0.4745 | ambiguous | 0.5124 | ambiguous | -0.884 | Destabilizing | 0.978 | D | 0.631 | neutral | None | None | None | None | N |
| V/F | 0.2664 | likely_benign | 0.2786 | benign | -1.247 | Destabilizing | 0.942 | D | 0.556 | neutral | N | 0.488960196 | None | None | N |
| V/G | 0.2851 | likely_benign | 0.2889 | benign | -1.339 | Destabilizing | 0.822 | D | 0.612 | neutral | N | 0.506810962 | None | None | N |
| V/H | 0.6502 | likely_pathogenic | 0.6906 | pathogenic | -0.891 | Destabilizing | 0.998 | D | 0.708 | prob.delet. | None | None | None | None | N |
| V/I | 0.0778 | likely_benign | 0.076 | benign | -0.651 | Destabilizing | 0.014 | N | 0.169 | neutral | N | 0.442463678 | None | None | N |
| V/K | 0.4416 | ambiguous | 0.5139 | ambiguous | -0.743 | Destabilizing | 0.978 | D | 0.632 | neutral | None | None | None | None | N |
| V/L | 0.2812 | likely_benign | 0.2955 | benign | -0.651 | Destabilizing | 0.247 | N | 0.39 | neutral | N | 0.519617739 | None | None | N |
| V/M | 0.1966 | likely_benign | 0.2038 | benign | -0.587 | Destabilizing | 0.956 | D | 0.455 | neutral | None | None | None | None | N |
| V/N | 0.3927 | ambiguous | 0.3901 | ambiguous | -0.588 | Destabilizing | 0.993 | D | 0.713 | prob.delet. | None | None | None | None | N |
| V/P | 0.5856 | likely_pathogenic | 0.5551 | ambiguous | -0.773 | Destabilizing | 0.978 | D | 0.652 | neutral | None | None | None | None | N |
| V/Q | 0.4358 | ambiguous | 0.4718 | ambiguous | -0.846 | Destabilizing | 0.993 | D | 0.661 | neutral | None | None | None | None | N |
| V/R | 0.3564 | ambiguous | 0.4093 | ambiguous | -0.263 | Destabilizing | 0.978 | D | 0.709 | prob.delet. | None | None | None | None | N |
| V/S | 0.272 | likely_benign | 0.2579 | benign | -1.116 | Destabilizing | 0.754 | D | 0.557 | neutral | None | None | None | None | N |
| V/T | 0.1976 | likely_benign | 0.198 | benign | -1.058 | Destabilizing | 0.86 | D | 0.454 | neutral | None | None | None | None | N |
| V/W | 0.8717 | likely_pathogenic | 0.8844 | pathogenic | -1.306 | Destabilizing | 0.998 | D | 0.724 | prob.delet. | None | None | None | None | N |
| V/Y | 0.6117 | likely_pathogenic | 0.6341 | pathogenic | -0.97 | Destabilizing | 0.978 | D | 0.561 | neutral | 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.