Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18479 | 55660;55661;55662 | chr2:178601562;178601561;178601560 | chr2:179466289;179466288;179466287 |
| N2AB | 16838 | 50737;50738;50739 | chr2:178601562;178601561;178601560 | chr2:179466289;179466288;179466287 |
| N2A | 15911 | 47956;47957;47958 | chr2:178601562;178601561;178601560 | chr2:179466289;179466288;179466287 |
| N2B | 9414 | 28465;28466;28467 | chr2:178601562;178601561;178601560 | chr2:179466289;179466288;179466287 |
| Novex-1 | 9539 | 28840;28841;28842 | chr2:178601562;178601561;178601560 | chr2:179466289;179466288;179466287 |
| Novex-2 | 9606 | 29041;29042;29043 | chr2:178601562;178601561;178601560 | chr2:179466289;179466288;179466287 |
| 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/A | rs772227196  |
-0.89 | None | N | 0.143 | 0.074 | 0.36355261348 | gnomAD-2.1.1 | 4.08E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 9.02E-06 | 0 |
| V/A | rs772227196 |
-0.89 | None | N | 0.143 | 0.074 | 0.36355261348 | gnomAD-4.0.0 | 1.60353E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.87907E-06 | 0 | 0 |
| V/I | rs559712998 |
-0.359 | 0.088 | N | 0.429 | 0.121 | 0.312608672186 | gnomAD-2.1.1 | 1.91894E-04 | None | None | None | None | I | None | 0 | 0 | None | 0 | 2.68152E-03 | None | 3.36E-05 | None | 0 | 0 | 0 |
| V/I | rs559712998 |
-0.359 | 0.088 | N | 0.429 | 0.121 | 0.312608672186 | gnomAD-3.1.2 | 6.58E-05 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 1.94175E-03 | None | 0 | 0 | 0 | 0 | 0 |
| V/I | rs559712998 |
-0.359 | 0.088 | N | 0.429 | 0.121 | 0.312608672186 | 1000 genomes | 1.99681E-04 | None | None | None | None | I | None | 0 | 0 | None | None | 1E-03 | 0 | None | None | None | 0 | None |
| V/I | rs559712998 |
-0.359 | 0.088 | N | 0.429 | 0.121 | 0.312608672186 | gnomAD-4.0.0 | 4.10281E-05 | None | None | None | None | I | None | 0 | 1.68016E-05 | None | 0 | 1.40839E-03 | None | 0 | 0 | 0 | 1.10774E-05 | 1.6071E-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 | 0.1646 | likely_benign | 0.2123 | benign | -0.762 | Destabilizing | None | N | 0.143 | neutral | N | 0.509674812 | None | None | I |
| V/C | 0.5812 | likely_pathogenic | 0.6685 | pathogenic | -0.78 | Destabilizing | 0.892 | D | 0.567 | neutral | None | None | None | None | I |
| V/D | 0.6207 | likely_pathogenic | 0.7504 | pathogenic | -0.128 | Destabilizing | 0.519 | D | 0.829 | deleterious | None | None | None | None | I |
| V/E | 0.3918 | ambiguous | 0.4798 | ambiguous | -0.218 | Destabilizing | 0.449 | N | 0.65 | prob.neutral | N | 0.467124098 | None | None | I |
| V/F | 0.2706 | likely_benign | 0.3288 | benign | -0.925 | Destabilizing | 0.687 | D | 0.522 | neutral | None | None | None | None | I |
| V/G | 0.314 | likely_benign | 0.4182 | ambiguous | -0.925 | Destabilizing | 0.104 | N | 0.663 | prob.neutral | N | 0.485481843 | None | None | I |
| V/H | 0.6431 | likely_pathogenic | 0.7389 | pathogenic | -0.457 | Destabilizing | 0.962 | D | 0.785 | deleterious | None | None | None | None | I |
| V/I | 0.0893 | likely_benign | 0.0915 | benign | -0.471 | Destabilizing | 0.088 | N | 0.429 | neutral | N | 0.510888321 | None | None | I |
| V/K | 0.3531 | ambiguous | 0.4279 | ambiguous | -0.362 | Destabilizing | 0.519 | D | 0.733 | deleterious | None | None | None | None | I |
| V/L | 0.2174 | likely_benign | 0.2675 | benign | -0.471 | Destabilizing | 0.046 | N | 0.384 | neutral | N | 0.464422525 | None | None | I |
| V/M | 0.1547 | likely_benign | 0.1876 | benign | -0.4 | Destabilizing | 0.687 | D | 0.529 | neutral | None | None | None | None | I |
| V/N | 0.3594 | ambiguous | 0.4715 | ambiguous | -0.133 | Destabilizing | 0.687 | D | 0.83 | deleterious | None | None | None | None | I |
| V/P | 0.674 | likely_pathogenic | 0.8078 | pathogenic | -0.533 | Destabilizing | 0.519 | D | 0.825 | deleterious | None | None | None | None | I |
| V/Q | 0.3368 | likely_benign | 0.4145 | ambiguous | -0.396 | Destabilizing | 0.687 | D | 0.825 | deleterious | None | None | None | None | I |
| V/R | 0.3251 | likely_benign | 0.3948 | ambiguous | 0.097 | Stabilizing | 0.519 | D | 0.825 | deleterious | None | None | None | None | I |
| V/S | 0.2102 | likely_benign | 0.2799 | benign | -0.632 | Destabilizing | 0.134 | N | 0.598 | neutral | None | None | None | None | I |
| V/T | 0.1602 | likely_benign | 0.1841 | benign | -0.618 | Destabilizing | 0.134 | N | 0.557 | neutral | None | None | None | None | I |
| V/W | 0.8997 | likely_pathogenic | 0.9336 | pathogenic | -0.95 | Destabilizing | 0.962 | D | 0.733 | deleterious | None | None | None | None | I |
| V/Y | 0.6348 | likely_pathogenic | 0.726 | pathogenic | -0.631 | Destabilizing | 0.687 | D | 0.526 | neutral | None | None | None | None | I |
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.