Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 22863 | 68812;68813;68814 | chr2:178577839;178577838;178577837 | chr2:179442566;179442565;179442564 |
| N2AB | 21222 | 63889;63890;63891 | chr2:178577839;178577838;178577837 | chr2:179442566;179442565;179442564 |
| N2A | 20295 | 61108;61109;61110 | chr2:178577839;178577838;178577837 | chr2:179442566;179442565;179442564 |
| N2B | 13798 | 41617;41618;41619 | chr2:178577839;178577838;178577837 | chr2:179442566;179442565;179442564 |
| Novex-1 | 13923 | 41992;41993;41994 | chr2:178577839;178577838;178577837 | chr2:179442566;179442565;179442564 |
| Novex-2 | 13990 | 42193;42194;42195 | chr2:178577839;178577838;178577837 | chr2:179442566;179442565;179442564 |
| 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/N | None | None | 0.142 | N | 0.263 | 0.207 | 0.229264304666 | gnomAD-4.0.0 | 6.88269E-07 | None | None | None | None | N | None | 0 | 2.283E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| T/S | None | None | 0.919 | N | 0.42 | 0.207 | 0.143124449307 | gnomAD-4.0.0 | 4.81741E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 6.32222E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.0909 | likely_benign | 0.0901 | benign | -0.715 | Destabilizing | 0.958 | D | 0.44 | neutral | N | 0.489102831 | None | None | N |
| T/C | 0.4557 | ambiguous | 0.4655 | ambiguous | -0.501 | Destabilizing | 1.0 | D | 0.75 | deleterious | None | None | None | None | N |
| T/D | 0.3128 | likely_benign | 0.3397 | benign | -0.225 | Destabilizing | 0.982 | D | 0.712 | prob.delet. | None | None | None | None | N |
| T/E | 0.2322 | likely_benign | 0.2543 | benign | -0.221 | Destabilizing | 0.991 | D | 0.708 | prob.delet. | None | None | None | None | N |
| T/F | 0.3935 | ambiguous | 0.4208 | ambiguous | -0.779 | Destabilizing | 0.998 | D | 0.797 | deleterious | None | None | None | None | N |
| T/G | 0.237 | likely_benign | 0.2347 | benign | -0.976 | Destabilizing | 0.938 | D | 0.65 | neutral | None | None | None | None | N |
| T/H | 0.2465 | likely_benign | 0.2586 | benign | -1.244 | Destabilizing | 0.999 | D | 0.793 | deleterious | None | None | None | None | N |
| T/I | 0.3105 | likely_benign | 0.3388 | benign | -0.114 | Destabilizing | 0.994 | D | 0.767 | deleterious | N | 0.512518409 | None | None | N |
| T/K | 0.1384 | likely_benign | 0.1455 | benign | -0.797 | Destabilizing | 0.991 | D | 0.715 | prob.delet. | None | None | None | None | N |
| T/L | 0.1253 | likely_benign | 0.1368 | benign | -0.114 | Destabilizing | 0.984 | D | 0.635 | neutral | None | None | None | None | N |
| T/M | 0.103 | likely_benign | 0.1044 | benign | 0.013 | Stabilizing | 1.0 | D | 0.764 | deleterious | None | None | None | None | N |
| T/N | 0.1178 | likely_benign | 0.1232 | benign | -0.735 | Destabilizing | 0.142 | N | 0.263 | neutral | N | 0.509323388 | None | None | N |
| T/P | 0.2524 | likely_benign | 0.2424 | benign | -0.282 | Destabilizing | 0.998 | D | 0.767 | deleterious | N | 0.489387815 | None | None | N |
| T/Q | 0.1785 | likely_benign | 0.1874 | benign | -0.836 | Destabilizing | 0.991 | D | 0.776 | deleterious | None | None | None | None | N |
| T/R | 0.1377 | likely_benign | 0.1426 | benign | -0.585 | Destabilizing | 0.991 | D | 0.765 | deleterious | None | None | None | None | N |
| T/S | 0.1077 | likely_benign | 0.1081 | benign | -0.966 | Destabilizing | 0.919 | D | 0.42 | neutral | N | 0.447445423 | None | None | N |
| T/V | 0.2083 | likely_benign | 0.2231 | benign | -0.282 | Destabilizing | 0.984 | D | 0.535 | neutral | None | None | None | None | N |
| T/W | 0.6612 | likely_pathogenic | 0.6869 | pathogenic | -0.767 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | N |
| T/Y | 0.3532 | ambiguous | 0.3859 | ambiguous | -0.527 | Destabilizing | 0.998 | D | 0.796 | 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.