Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 23552 | 70879;70880;70881 | chr2:178575478;178575477;178575476 | chr2:179440205;179440204;179440203 |
| N2AB | 21911 | 65956;65957;65958 | chr2:178575478;178575477;178575476 | chr2:179440205;179440204;179440203 |
| N2A | 20984 | 63175;63176;63177 | chr2:178575478;178575477;178575476 | chr2:179440205;179440204;179440203 |
| N2B | 14487 | 43684;43685;43686 | chr2:178575478;178575477;178575476 | chr2:179440205;179440204;179440203 |
| Novex-1 | 14612 | 44059;44060;44061 | chr2:178575478;178575477;178575476 | chr2:179440205;179440204;179440203 |
| Novex-2 | 14679 | 44260;44261;44262 | chr2:178575478;178575477;178575476 | chr2:179440205;179440204;179440203 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/E | None | None | 0.994 | N | 0.772 | 0.382 | 0.393471546983 | gnomAD-4.0.0 | 6.84263E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99546E-07 | 0 | 0 |
| A/T | None | None | 0.958 | N | 0.679 | 0.278 | 0.270447802918 | gnomAD-4.0.0 | 6.84269E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99546E-07 | 0 | 0 |
| A/V | rs754742503  |
0.205 | 0.142 | N | 0.398 | 0.179 | 0.257292322809 | gnomAD-2.1.1 | 8.06E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 6.54E-05 | None | 0 | 0 | 0 |
| A/V | rs754742503 |
0.205 | 0.142 | N | 0.398 | 0.179 | 0.257292322809 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.07039E-04 | 0 |
| A/V | rs754742503 |
0.205 | 0.142 | N | 0.398 | 0.179 | 0.257292322809 | gnomAD-4.0.0 | 6.19752E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.4769E-07 | 9.88142E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.4749 | ambiguous | 0.4617 | ambiguous | -0.89 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| A/D | 0.7361 | likely_pathogenic | 0.6783 | pathogenic | -2.121 | Highly Destabilizing | 0.998 | D | 0.831 | deleterious | None | None | None | None | N |
| A/E | 0.6044 | likely_pathogenic | 0.542 | ambiguous | -1.984 | Destabilizing | 0.994 | D | 0.772 | deleterious | N | 0.467223262 | None | None | N |
| A/F | 0.4626 | ambiguous | 0.4117 | ambiguous | -0.749 | Destabilizing | 0.991 | D | 0.868 | deleterious | None | None | None | None | N |
| A/G | 0.1882 | likely_benign | 0.1937 | benign | -1.442 | Destabilizing | 0.979 | D | 0.626 | neutral | N | 0.469764922 | None | None | N |
| A/H | 0.6625 | likely_pathogenic | 0.6143 | pathogenic | -1.949 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| A/I | 0.3562 | ambiguous | 0.2944 | benign | 0.094 | Stabilizing | 0.938 | D | 0.711 | prob.delet. | None | None | None | None | N |
| A/K | 0.7512 | likely_pathogenic | 0.7018 | pathogenic | -1.282 | Destabilizing | 0.995 | D | 0.78 | deleterious | None | None | None | None | N |
| A/L | 0.2653 | likely_benign | 0.2228 | benign | 0.094 | Stabilizing | 0.938 | D | 0.587 | neutral | None | None | None | None | N |
| A/M | 0.3139 | likely_benign | 0.2687 | benign | 0.048 | Stabilizing | 0.999 | D | 0.836 | deleterious | None | None | None | None | N |
| A/N | 0.4732 | ambiguous | 0.4099 | ambiguous | -1.35 | Destabilizing | 0.998 | D | 0.867 | deleterious | None | None | None | None | N |
| A/P | 0.974 | likely_pathogenic | 0.9622 | pathogenic | -0.232 | Destabilizing | 0.998 | D | 0.82 | deleterious | N | 0.486448073 | None | None | N |
| A/Q | 0.4921 | ambiguous | 0.4543 | ambiguous | -1.254 | Destabilizing | 0.998 | D | 0.853 | deleterious | None | None | None | None | N |
| A/R | 0.6334 | likely_pathogenic | 0.5856 | pathogenic | -1.245 | Destabilizing | 0.995 | D | 0.838 | deleterious | None | None | None | None | N |
| A/S | 0.1113 | likely_benign | 0.1061 | benign | -1.725 | Destabilizing | 0.979 | D | 0.619 | neutral | N | 0.386642106 | None | None | N |
| A/T | 0.1366 | likely_benign | 0.1108 | benign | -1.479 | Destabilizing | 0.958 | D | 0.679 | prob.neutral | N | 0.401152986 | None | None | N |
| A/V | 0.1969 | likely_benign | 0.1636 | benign | -0.232 | Destabilizing | 0.142 | N | 0.398 | neutral | N | 0.498567676 | None | None | N |
| A/W | 0.8615 | likely_pathogenic | 0.8428 | pathogenic | -1.51 | Destabilizing | 1.0 | D | 0.844 | deleterious | None | None | None | None | N |
| A/Y | 0.6112 | likely_pathogenic | 0.5691 | pathogenic | -0.956 | Destabilizing | 0.995 | D | 0.875 | 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.