Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 7462 | 22609;22610;22611 | chr2:178722403;178722402;178722401 | chr2:179587130;179587129;179587128 |
| N2AB | 7145 | 21658;21659;21660 | chr2:178722403;178722402;178722401 | chr2:179587130;179587129;179587128 |
| N2A | 6218 | 18877;18878;18879 | chr2:178722403;178722402;178722401 | chr2:179587130;179587129;179587128 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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/E | rs183482849  |
0.025 | 0.994 | D | 0.421 | 0.329 | 0.285698343383 | gnomAD-2.1.1 | 1.18103E-04 | None | None | None | None | I | None | 0 | 1.13295E-04 | None | 0 | 0 | None | 0 | None | 0 | 2.27565E-04 | 0 |
| D/E | rs183482849 |
0.025 | 0.994 | D | 0.421 | 0.329 | 0.285698343383 | gnomAD-3.1.2 | 4.6E-05 | None | None | None | None | I | None | 0 | 6.56E-05 | 0 | 0 | 0 | None | 0 | 0 | 8.82E-05 | 0 | 0 |
| D/E | rs183482849 |
0.025 | 0.994 | D | 0.421 | 0.329 | 0.285698343383 | 1000 genomes | 1.99681E-04 | None | None | None | None | I | None | 0 | 1.4E-03 | None | None | 0 | 0 | None | None | None | 0 | None |
| D/E | rs183482849 |
0.025 | 0.994 | D | 0.421 | 0.329 | 0.285698343383 | gnomAD-4.0.0 | 1.3687E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79926E-06 | 0 | 0 |
| D/G | rs750133852 |
0.212 | 0.999 | N | 0.587 | 0.301 | 0.348101942276 | gnomAD-2.1.1 | 1.79E-05 | None | None | None | None | I | None | 2.06817E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| D/G | rs750133852 |
0.212 | 0.999 | N | 0.587 | 0.301 | 0.348101942276 | gnomAD-3.1.2 | 5.92E-05 | None | None | None | None | I | None | 2.17108E-04 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| D/G | rs750133852 |
0.212 | 0.999 | N | 0.587 | 0.301 | 0.348101942276 | gnomAD-4.0.0 | 1.0537E-05 | None | None | None | None | I | None | 1.73565E-04 | 1.66783E-05 | None | 0 | 2.22985E-05 | None | 0 | 0 | 0 | 1.09815E-05 | 1.60154E-05 |
| D/H | rs12693166 |
0.559 | 1.0 | N | 0.683 | 0.532 | None | gnomAD-2.1.1 | 1.76716E-01 | None | None | None | None | I | None | 1.70641E-01 | 1.74297E-01 | None | 1.22599E-01 | 4.30641E-01 | None | 2.22364E-01 | None | 9.448E-02 | 1.50119E-01 | 1.61877E-01 |
| D/H | rs12693166 |
0.559 | 1.0 | N | 0.683 | 0.532 | None | gnomAD-3.1.2 | 1.70045E-01 | None | None | None | None | I | None | 1.71672E-01 | 1.72923E-01 | 4.75664E-01 | 1.26009E-01 | 4.34149E-01 | None | 9.82615E-02 | 1.20253E-01 | 1.5413E-01 | 2.25083E-01 | 1.68744E-01 |
| D/H | rs12693166 |
0.559 | 1.0 | N | 0.683 | 0.532 | None | 1000 genomes | 2.47005E-01 | None | None | None | None | I | None | 2.02E-01 | 1.844E-01 | None | None | 4.375E-01 | 1.581E-01 | None | None | None | 2.474E-01 | None |
| D/H | rs12693166 |
0.559 | 1.0 | N | 0.683 | 0.532 | None | gnomAD-4.0.0 | 1.64438E-01 | None | None | None | None | I | None | 1.71917E-01 | 1.74628E-01 | None | 1.24223E-01 | 4.42954E-01 | None | 9.43334E-02 | 1.95343E-01 | 1.52596E-01 | 2.20228E-01 | 1.71519E-01 |
| D/N | rs12693166 |
0.666 | 1.0 | N | 0.683 | 0.356 | 0.45755974854 | gnomAD-2.1.1 | 2.82E-05 | None | None | None | None | I | None | 0 | 2.91E-05 | None | 0 | 3.34747E-04 | None | 0 | None | 0 | 0 | 0 |
| D/N | rs12693166 |
0.666 | 1.0 | N | 0.683 | 0.356 | 0.45755974854 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 1.9425E-04 | None | 0 | 0 | 0 | 0 | 0 |
| D/N | rs12693166 |
0.666 | 1.0 | N | 0.683 | 0.356 | 0.45755974854 | gnomAD-4.0.0 | 3.71935E-06 | None | None | None | None | I | None | 0 | 1.66828E-05 | None | 0 | 6.69523E-05 | None | 0 | 0 | 1.69565E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.1846 | likely_benign | 0.1888 | benign | -0.192 | Destabilizing | 0.996 | D | 0.539 | neutral | D | 0.538359081 | None | None | I |
| D/C | 0.6604 | likely_pathogenic | 0.6462 | pathogenic | 0.141 | Stabilizing | 1.0 | D | 0.76 | deleterious | None | None | None | None | I |
| D/E | 0.2157 | likely_benign | 0.2355 | benign | -0.246 | Destabilizing | 0.994 | D | 0.421 | neutral | D | 0.531009035 | None | None | I |
| D/F | 0.651 | likely_pathogenic | 0.665 | pathogenic | -0.32 | Destabilizing | 1.0 | D | 0.753 | deleterious | None | None | None | None | I |
| D/G | 0.1287 | likely_benign | 0.1342 | benign | -0.368 | Destabilizing | 0.999 | D | 0.587 | neutral | N | 0.440136314 | None | None | I |
| D/H | 0.2703 | likely_benign | 0.3222 | benign | -0.225 | Destabilizing | 1.0 | D | 0.683 | prob.neutral | N | 0.508281987 | None | None | I |
| D/I | 0.5134 | ambiguous | 0.5349 | ambiguous | 0.216 | Stabilizing | 1.0 | D | 0.663 | neutral | None | None | None | None | I |
| D/K | 0.3778 | ambiguous | 0.3992 | ambiguous | 0.244 | Stabilizing | 1.0 | D | 0.652 | neutral | None | None | None | None | I |
| D/L | 0.4704 | ambiguous | 0.4944 | ambiguous | 0.216 | Stabilizing | 1.0 | D | 0.655 | neutral | None | None | None | None | I |
| D/M | 0.6407 | likely_pathogenic | 0.6587 | pathogenic | 0.375 | Stabilizing | 1.0 | D | 0.739 | prob.delet. | None | None | None | None | I |
| D/N | 0.0897 | likely_benign | 0.0911 | benign | 0.149 | Stabilizing | 1.0 | D | 0.683 | prob.neutral | N | 0.518463812 | None | None | I |
| D/P | 0.8007 | likely_pathogenic | 0.8251 | pathogenic | 0.102 | Stabilizing | 0.998 | D | 0.65 | neutral | None | None | None | None | I |
| D/Q | 0.3575 | ambiguous | 0.3796 | ambiguous | 0.159 | Stabilizing | 1.0 | D | 0.685 | prob.neutral | None | None | None | None | I |
| D/R | 0.3521 | ambiguous | 0.3715 | ambiguous | 0.35 | Stabilizing | 1.0 | D | 0.695 | prob.neutral | None | None | None | None | I |
| D/S | 0.0972 | likely_benign | 0.1023 | benign | 0.008 | Stabilizing | 1.0 | D | 0.651 | neutral | None | None | None | None | I |
| D/T | 0.2017 | likely_benign | 0.2078 | benign | 0.133 | Stabilizing | 0.998 | D | 0.639 | neutral | None | None | None | None | I |
| D/V | 0.316 | likely_benign | 0.3291 | benign | 0.102 | Stabilizing | 0.831 | D | 0.488 | neutral | N | 0.507143125 | None | None | I |
| D/W | 0.8905 | likely_pathogenic | 0.8962 | pathogenic | -0.272 | Destabilizing | 1.0 | D | 0.775 | deleterious | None | None | None | None | I |
| D/Y | 0.3022 | likely_benign | 0.3148 | benign | -0.112 | Destabilizing | 1.0 | D | 0.747 | deleterious | D | 0.523930707 | 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.