Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 8425 | 25498;25499;25500 | chr2:178717601;178717600;178717599 | chr2:179582328;179582327;179582326 |
| N2AB | 8108 | 24547;24548;24549 | chr2:178717601;178717600;178717599 | chr2:179582328;179582327;179582326 |
| N2A | 7181 | 21766;21767;21768 | chr2:178717601;178717600;178717599 | chr2:179582328;179582327;179582326 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/N | rs13390491  |
0.138 | 0.154 | D | 0.16 | 0.129 | None | gnomAD-2.1.1 | 1.75539E-01 | None | None | None | None | I | None | 1.64581E-01 | 1.73539E-01 | None | 1.21606E-01 | 4.29082E-01 | None | 2.21704E-01 | None | 9.41587E-02 | 1.4968E-01 | 1.61948E-01 |
| S/N | rs13390491 |
0.138 | 0.154 | D | 0.16 | 0.129 | None | gnomAD-3.1.2 | 1.67878E-01 | None | None | None | None | I | None | 1.65385E-01 | 1.71236E-01 | 4.71491E-01 | 1.25648E-01 | 4.32144E-01 | None | 9.87351E-02 | 1.20253E-01 | 1.53741E-01 | 2.23744E-01 | 1.66826E-01 |
| S/N | rs13390491 |
0.138 | 0.154 | D | 0.16 | 0.129 | None | 1000 genomes | 2.4381E-01 | None | None | None | None | I | None | 1.936E-01 | 1.83E-01 | None | None | 4.355E-01 | 1.571E-01 | None | None | None | 2.464E-01 | None |
| S/N | rs13390491 |
0.138 | 0.154 | D | 0.16 | 0.129 | None | gnomAD-4.0.0 | 1.63811E-01 | None | None | None | None | I | None | 1.65942E-01 | 1.73532E-01 | None | 1.23175E-01 | 4.42288E-01 | None | 9.42399E-02 | 1.94977E-01 | 1.5232E-01 | 2.19715E-01 | 1.70805E-01 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.0945 | likely_benign | 0.0826 | benign | -0.29 | Destabilizing | None | N | 0.096 | neutral | None | None | None | None | I |
| S/C | 0.1842 | likely_benign | 0.1479 | benign | -0.21 | Destabilizing | 0.985 | D | 0.308 | neutral | D | 0.534706538 | None | None | I |
| S/D | 0.2383 | likely_benign | 0.1951 | benign | 0.058 | Stabilizing | 0.013 | N | 0.136 | neutral | None | None | None | None | I |
| S/E | 0.3332 | likely_benign | 0.2643 | benign | -0.027 | Destabilizing | 0.543 | D | 0.126 | neutral | None | None | None | None | I |
| S/F | 0.2133 | likely_benign | 0.1637 | benign | -0.833 | Destabilizing | 0.982 | D | 0.353 | neutral | None | None | None | None | I |
| S/G | 0.087 | likely_benign | 0.0778 | benign | -0.416 | Destabilizing | 0.008 | N | 0.097 | neutral | N | 0.515975293 | None | None | I |
| S/H | 0.2003 | likely_benign | 0.1696 | benign | -0.814 | Destabilizing | 0.997 | D | 0.317 | neutral | None | None | None | None | I |
| S/I | 0.1669 | likely_benign | 0.1406 | benign | -0.087 | Destabilizing | 0.853 | D | 0.279 | neutral | N | 0.516348793 | None | None | I |
| S/K | 0.3311 | likely_benign | 0.2729 | benign | -0.524 | Destabilizing | 0.76 | D | 0.115 | neutral | None | None | None | None | I |
| S/L | 0.1303 | likely_benign | 0.1085 | benign | -0.087 | Destabilizing | 0.046 | N | 0.211 | neutral | None | None | None | None | I |
| S/M | 0.208 | likely_benign | 0.178 | benign | 0.054 | Stabilizing | 0.982 | D | 0.313 | neutral | None | None | None | None | I |
| S/N | 0.0878 | likely_benign | 0.0828 | benign | -0.235 | Destabilizing | 0.154 | N | 0.16 | neutral | D | 0.534561054 | None | None | I |
| S/P | 0.3632 | ambiguous | 0.2469 | benign | -0.125 | Destabilizing | 0.893 | D | 0.335 | neutral | None | None | None | None | I |
| S/Q | 0.2981 | likely_benign | 0.2516 | benign | -0.448 | Destabilizing | 0.939 | D | 0.278 | neutral | None | None | None | None | I |
| S/R | 0.2696 | likely_benign | 0.2258 | benign | -0.266 | Destabilizing | 0.035 | N | 0.148 | neutral | N | 0.505662299 | None | None | I |
| S/T | 0.0913 | likely_benign | 0.0805 | benign | -0.316 | Destabilizing | 0.005 | N | 0.11 | neutral | N | 0.509145321 | None | None | I |
| S/V | 0.2009 | likely_benign | 0.1644 | benign | -0.125 | Destabilizing | 0.072 | N | 0.242 | neutral | None | None | None | None | I |
| S/W | 0.2741 | likely_benign | 0.2157 | benign | -0.889 | Destabilizing | 0.999 | D | 0.33 | neutral | None | None | None | None | I |
| S/Y | 0.1747 | likely_benign | 0.1436 | benign | -0.603 | Destabilizing | 0.997 | D | 0.321 | 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.