Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 13770 | 41533;41534;41535 | chr2:178636419;178636418;178636417 | chr2:179501146;179501145;179501144 |
| N2AB | 12129 | 36610;36611;36612 | chr2:178636419;178636418;178636417 | chr2:179501146;179501145;179501144 |
| N2A | 11202 | 33829;33830;33831 | chr2:178636419;178636418;178636417 | chr2:179501146;179501145;179501144 |
| N2B | 4705 | 14338;14339;14340 | chr2:178636419;178636418;178636417 | chr2:179501146;179501145;179501144 |
| Novex-1 | 4830 | 14713;14714;14715 | chr2:178636419;178636418;178636417 | chr2:179501146;179501145;179501144 |
| Novex-2 | 4897 | 14914;14915;14916 | chr2:178636419;178636418;178636417 | chr2:179501146;179501145;179501144 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/K | rs774214497  |
-0.565 | 0.993 | N | 0.74 | 0.457 | 0.495506531988 | gnomAD-2.1.1 | 8.12E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.79E-05 | 0 |
| T/K | rs774214497 |
-0.565 | 0.993 | N | 0.74 | 0.457 | 0.495506531988 | 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 |
| T/K | rs774214497 |
-0.565 | 0.993 | N | 0.74 | 0.457 | 0.495506531988 | gnomAD-4.0.0 | 1.36731E-05 | None | None | None | None | N | None | 0 | 1.67718E-05 | None | 0 | 0 | None | 0 | 0 | 1.78409E-05 | 0 | 0 |
| T/M | rs774214497 |
0.063 | 0.947 | D | 0.527 | 0.401 | 0.661236301376 | gnomAD-2.1.1 | 1.44E-05 | None | None | None | None | N | None | 8.3E-05 | 0 | None | 0 | 0 | None | 3.32E-05 | None | 0 | 7.88E-06 | 0 |
| T/M | rs774214497 |
0.063 | 0.947 | D | 0.527 | 0.401 | 0.661236301376 | gnomAD-3.1.2 | 3.95E-05 | None | None | None | None | N | None | 1.20703E-04 | 0 | 0 | 0 | 1.93949E-04 | None | 0 | 0 | 0 | 0 | 0 |
| T/M | rs774214497 |
0.063 | 0.947 | D | 0.527 | 0.401 | 0.661236301376 | gnomAD-4.0.0 | 2.54817E-05 | None | None | None | None | N | None | 1.07164E-04 | 0 | None | 0 | 6.72646E-05 | None | 0 | 0 | 2.29384E-05 | 3.31301E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.1357 | likely_benign | 0.154 | benign | -0.779 | Destabilizing | 0.046 | N | 0.31 | neutral | N | 0.510287905 | None | None | N |
| T/C | 0.6785 | likely_pathogenic | 0.7396 | pathogenic | -0.491 | Destabilizing | 0.999 | D | 0.721 | prob.delet. | None | None | None | None | N |
| T/D | 0.7805 | likely_pathogenic | 0.8089 | pathogenic | -0.151 | Destabilizing | 0.993 | D | 0.771 | deleterious | None | None | None | None | N |
| T/E | 0.5724 | likely_pathogenic | 0.6336 | pathogenic | -0.206 | Destabilizing | 0.986 | D | 0.744 | deleterious | None | None | None | None | N |
| T/F | 0.4503 | ambiguous | 0.5066 | ambiguous | -1.138 | Destabilizing | 0.986 | D | 0.821 | deleterious | None | None | None | None | N |
| T/G | 0.5535 | ambiguous | 0.5718 | pathogenic | -0.95 | Destabilizing | 0.91 | D | 0.757 | deleterious | None | None | None | None | N |
| T/H | 0.3738 | ambiguous | 0.4253 | ambiguous | -1.298 | Destabilizing | 0.999 | D | 0.794 | deleterious | None | None | None | None | N |
| T/I | 0.2421 | likely_benign | 0.299 | benign | -0.431 | Destabilizing | 0.973 | D | 0.74 | deleterious | None | None | None | None | N |
| T/K | 0.2615 | likely_benign | 0.2996 | benign | -0.611 | Destabilizing | 0.993 | D | 0.74 | deleterious | N | 0.506673537 | None | None | N |
| T/L | 0.2334 | likely_benign | 0.2636 | benign | -0.431 | Destabilizing | 0.807 | D | 0.641 | neutral | None | None | None | None | N |
| T/M | 0.1426 | likely_benign | 0.1602 | benign | -0.044 | Destabilizing | 0.947 | D | 0.527 | neutral | D | 0.53678514 | None | None | N |
| T/N | 0.296 | likely_benign | 0.3163 | benign | -0.438 | Destabilizing | 0.993 | D | 0.651 | neutral | None | None | None | None | N |
| T/P | 0.6283 | likely_pathogenic | 0.6085 | pathogenic | -0.518 | Destabilizing | 0.991 | D | 0.77 | deleterious | N | 0.514732231 | None | None | N |
| T/Q | 0.3102 | likely_benign | 0.3504 | ambiguous | -0.739 | Destabilizing | 0.993 | D | 0.763 | deleterious | None | None | None | None | N |
| T/R | 0.2337 | likely_benign | 0.2778 | benign | -0.299 | Destabilizing | 0.996 | D | 0.773 | deleterious | N | 0.510594613 | None | None | N |
| T/S | 0.1646 | likely_benign | 0.1828 | benign | -0.703 | Destabilizing | 0.885 | D | 0.555 | neutral | N | 0.48408601 | None | None | N |
| T/V | 0.1461 | likely_benign | 0.1793 | benign | -0.518 | Destabilizing | 0.91 | D | 0.559 | neutral | None | None | None | None | N |
| T/W | 0.8431 | likely_pathogenic | 0.8806 | pathogenic | -1.032 | Destabilizing | 0.999 | D | 0.799 | deleterious | None | None | None | None | N |
| T/Y | 0.5861 | likely_pathogenic | 0.6292 | pathogenic | -0.797 | Destabilizing | 0.998 | D | 0.825 | 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.