Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32066 | 96421;96422;96423 | chr2:178543948;178543947;178543946 | chr2:179408675;179408674;179408673 |
| N2AB | 30425 | 91498;91499;91500 | chr2:178543948;178543947;178543946 | chr2:179408675;179408674;179408673 |
| N2A | 29498 | 88717;88718;88719 | chr2:178543948;178543947;178543946 | chr2:179408675;179408674;179408673 |
| N2B | 23001 | 69226;69227;69228 | chr2:178543948;178543947;178543946 | chr2:179408675;179408674;179408673 |
| Novex-1 | 23126 | 69601;69602;69603 | chr2:178543948;178543947;178543946 | chr2:179408675;179408674;179408673 |
| Novex-2 | 23193 | 69802;69803;69804 | chr2:178543948;178543947;178543946 | chr2:179408675;179408674;179408673 |
| 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 | rs1438404917  |
0.057 | 0.37 | N | 0.259 | 0.124 | 0.238096912614 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.86E-06 | 0 |
| S/N | rs1438404917 |
0.057 | 0.37 | N | 0.259 | 0.124 | 0.238096912614 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| S/N | rs1438404917 |
0.057 | 0.37 | N | 0.259 | 0.124 | 0.238096912614 | gnomAD-4.0.0 | 3.09874E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.2383E-06 | 0 | 0 |
| S/R | rs747323263 |
-0.038 | 0.997 | N | 0.684 | 0.416 | 0.42886291518 | gnomAD-2.1.1 | 7.13E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.56E-05 | 0 |
| S/R | rs747323263 |
-0.038 | 0.997 | N | 0.684 | 0.416 | 0.42886291518 | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 5.88E-05 | 0 | 0 |
| S/R | rs747323263 |
-0.038 | 0.997 | N | 0.684 | 0.416 | 0.42886291518 | gnomAD-4.0.0 | 6.81722E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.32421E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.134 | likely_benign | 0.1259 | benign | -0.542 | Destabilizing | 0.98 | D | 0.515 | neutral | None | None | None | None | N |
| S/C | 0.1714 | likely_benign | 0.1445 | benign | -0.339 | Destabilizing | 1.0 | D | 0.657 | neutral | N | 0.517777144 | None | None | N |
| S/D | 0.5426 | ambiguous | 0.4235 | ambiguous | 0.551 | Stabilizing | 0.967 | D | 0.557 | neutral | None | None | None | None | N |
| S/E | 0.7158 | likely_pathogenic | 0.6138 | pathogenic | 0.463 | Stabilizing | 0.983 | D | 0.558 | neutral | None | None | None | None | N |
| S/F | 0.3246 | likely_benign | 0.2713 | benign | -1.128 | Destabilizing | 0.999 | D | 0.702 | prob.neutral | None | None | None | None | N |
| S/G | 0.1331 | likely_benign | 0.1034 | benign | -0.649 | Destabilizing | 0.978 | D | 0.529 | neutral | N | 0.489593982 | None | None | N |
| S/H | 0.4429 | ambiguous | 0.3384 | benign | -1.091 | Destabilizing | 0.999 | D | 0.662 | neutral | None | None | None | None | N |
| S/I | 0.3067 | likely_benign | 0.2463 | benign | -0.389 | Destabilizing | 0.999 | D | 0.704 | prob.neutral | D | 0.532790185 | None | None | N |
| S/K | 0.777 | likely_pathogenic | 0.6556 | pathogenic | -0.356 | Destabilizing | 0.983 | D | 0.57 | neutral | None | None | None | None | N |
| S/L | 0.1943 | likely_benign | 0.1658 | benign | -0.389 | Destabilizing | 0.998 | D | 0.619 | neutral | None | None | None | None | N |
| S/M | 0.2385 | likely_benign | 0.21 | benign | -0.182 | Destabilizing | 1.0 | D | 0.662 | neutral | None | None | None | None | N |
| S/N | 0.18 | likely_benign | 0.129 | benign | -0.109 | Destabilizing | 0.37 | N | 0.259 | neutral | N | 0.49667467 | None | None | N |
| S/P | 0.8337 | likely_pathogenic | 0.7597 | pathogenic | -0.412 | Destabilizing | 0.999 | D | 0.676 | prob.neutral | None | None | None | None | N |
| S/Q | 0.6095 | likely_pathogenic | 0.511 | ambiguous | -0.322 | Destabilizing | 0.998 | D | 0.675 | prob.neutral | None | None | None | None | N |
| S/R | 0.7544 | likely_pathogenic | 0.6219 | pathogenic | -0.203 | Destabilizing | 0.997 | D | 0.684 | prob.neutral | N | 0.499504331 | None | None | N |
| S/T | 0.0954 | likely_benign | 0.0861 | benign | -0.275 | Destabilizing | 0.978 | D | 0.533 | neutral | N | 0.487652541 | None | None | N |
| S/V | 0.3101 | likely_benign | 0.2687 | benign | -0.412 | Destabilizing | 0.999 | D | 0.703 | prob.neutral | None | None | None | None | N |
| S/W | 0.4856 | ambiguous | 0.4074 | ambiguous | -1.099 | Destabilizing | 1.0 | D | 0.715 | prob.delet. | None | None | None | None | N |
| S/Y | 0.2188 | likely_benign | 0.1793 | benign | -0.829 | Destabilizing | 0.999 | D | 0.704 | prob.neutral | 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.