Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 27854 | 83785;83786;83787 | chr2:178562572;178562571;178562570 | chr2:179427299;179427298;179427297 |
| N2AB | 26213 | 78862;78863;78864 | chr2:178562572;178562571;178562570 | chr2:179427299;179427298;179427297 |
| N2A | 25286 | 76081;76082;76083 | chr2:178562572;178562571;178562570 | chr2:179427299;179427298;179427297 |
| N2B | 18789 | 56590;56591;56592 | chr2:178562572;178562571;178562570 | chr2:179427299;179427298;179427297 |
| Novex-1 | 18914 | 56965;56966;56967 | chr2:178562572;178562571;178562570 | chr2:179427299;179427298;179427297 |
| Novex-2 | 18981 | 57166;57167;57168 | chr2:178562572;178562571;178562570 | chr2:179427299;179427298;179427297 |
| 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/A | rs876658086  |
-0.599 | 0.783 | N | 0.674 | 0.247 | 0.185906805712 | gnomAD-2.1.1 | 3.18E-05 | None | None | None | None | N | None | 1.14784E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| T/A | rs876658086 |
-0.599 | 0.783 | N | 0.674 | 0.247 | 0.185906805712 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| T/A | rs876658086 |
-0.599 | 0.783 | N | 0.674 | 0.247 | 0.185906805712 | gnomAD-4.0.0 | 6.57168E-06 | None | None | None | None | N | None | 2.41336E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| T/K | None | None | 0.997 | N | 0.779 | 0.356 | 0.425148423609 | gnomAD-4.0.0 | 1.59826E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.7767E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.2921 | likely_benign | 0.2479 | benign | -0.909 | Destabilizing | 0.783 | D | 0.674 | prob.neutral | N | 0.46810942 | None | None | N |
| T/C | 0.7266 | likely_pathogenic | 0.6679 | pathogenic | -0.478 | Destabilizing | 1.0 | D | 0.759 | deleterious | None | None | None | None | N |
| T/D | 0.8952 | likely_pathogenic | 0.8828 | pathogenic | -0.655 | Destabilizing | 0.997 | D | 0.783 | deleterious | None | None | None | None | N |
| T/E | 0.887 | likely_pathogenic | 0.8678 | pathogenic | -0.508 | Destabilizing | 0.999 | D | 0.772 | deleterious | None | None | None | None | N |
| T/F | 0.7482 | likely_pathogenic | 0.6761 | pathogenic | -0.547 | Destabilizing | 0.998 | D | 0.811 | deleterious | None | None | None | None | N |
| T/G | 0.6004 | likely_pathogenic | 0.5538 | ambiguous | -1.307 | Destabilizing | 1.0 | D | 0.778 | deleterious | None | None | None | None | N |
| T/H | 0.8302 | likely_pathogenic | 0.7983 | pathogenic | -1.41 | Destabilizing | 1.0 | D | 0.822 | deleterious | None | None | None | None | N |
| T/I | 0.4325 | ambiguous | 0.3075 | benign | 0.115 | Stabilizing | 0.273 | N | 0.443 | neutral | N | 0.473932317 | None | None | N |
| T/K | 0.867 | likely_pathogenic | 0.8349 | pathogenic | -0.508 | Destabilizing | 0.997 | D | 0.779 | deleterious | N | 0.50607913 | None | None | N |
| T/L | 0.2486 | likely_benign | 0.1849 | benign | 0.115 | Stabilizing | 0.972 | D | 0.665 | prob.neutral | None | None | None | None | N |
| T/M | 0.1469 | likely_benign | 0.1321 | benign | 0.128 | Stabilizing | 0.999 | D | 0.747 | deleterious | None | None | None | None | N |
| T/N | 0.4439 | ambiguous | 0.3905 | ambiguous | -0.916 | Destabilizing | 0.997 | D | 0.795 | deleterious | None | None | None | None | N |
| T/P | 0.7102 | likely_pathogenic | 0.6323 | pathogenic | -0.193 | Destabilizing | 0.996 | D | 0.756 | deleterious | N | 0.506757511 | None | None | N |
| T/Q | 0.7925 | likely_pathogenic | 0.7648 | pathogenic | -0.765 | Destabilizing | 0.999 | D | 0.753 | deleterious | None | None | None | None | N |
| T/R | 0.8662 | likely_pathogenic | 0.8292 | pathogenic | -0.614 | Destabilizing | 1.0 | D | 0.763 | deleterious | N | 0.517181946 | None | None | N |
| T/S | 0.2817 | likely_benign | 0.2502 | benign | -1.208 | Destabilizing | 0.88 | D | 0.663 | prob.neutral | N | 0.513166196 | None | None | N |
| T/V | 0.3451 | ambiguous | 0.2593 | benign | -0.193 | Destabilizing | 0.91 | D | 0.653 | prob.neutral | None | None | None | None | N |
| T/W | 0.9509 | likely_pathogenic | 0.9324 | pathogenic | -0.637 | Destabilizing | 1.0 | D | 0.816 | deleterious | None | None | None | None | N |
| T/Y | 0.8359 | likely_pathogenic | 0.7954 | pathogenic | -0.303 | Destabilizing | 1.0 | D | 0.822 | 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.