Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 15195 | 45808;45809;45810 | chr2:178621135;178621134;178621133 | chr2:179485862;179485861;179485860 |
| N2AB | 13554 | 40885;40886;40887 | chr2:178621135;178621134;178621133 | chr2:179485862;179485861;179485860 |
| N2A | 12627 | 38104;38105;38106 | chr2:178621135;178621134;178621133 | chr2:179485862;179485861;179485860 |
| N2B | 6130 | 18613;18614;18615 | chr2:178621135;178621134;178621133 | chr2:179485862;179485861;179485860 |
| Novex-1 | 6255 | 18988;18989;18990 | chr2:178621135;178621134;178621133 | chr2:179485862;179485861;179485860 |
| Novex-2 | 6322 | 19189;19190;19191 | chr2:178621135;178621134;178621133 | chr2:179485862;179485861;179485860 |
| 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/T | rs536167152  |
-0.432 | 0.007 | N | 0.063 | 0.043 | 0.170165803431 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| A/T | rs536167152 |
-0.432 | 0.007 | N | 0.063 | 0.043 | 0.170165803431 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 0 | 1E-03 | None | None | None | 0 | None |
| A/T | rs536167152 |
-0.432 | 0.007 | N | 0.063 | 0.043 | 0.170165803431 | gnomAD-4.0.0 | 6.57791E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.47288E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.7139 | likely_pathogenic | 0.6461 | pathogenic | -0.836 | Destabilizing | 0.992 | D | 0.243 | neutral | None | None | None | None | N |
| A/D | 0.2579 | likely_benign | 0.244 | benign | -0.649 | Destabilizing | 0.004 | N | 0.208 | neutral | N | 0.38271523 | None | None | N |
| A/E | 0.2261 | likely_benign | 0.2053 | benign | -0.798 | Destabilizing | 0.002 | N | 0.121 | neutral | None | None | None | None | N |
| A/F | 0.4656 | ambiguous | 0.4785 | ambiguous | -0.9 | Destabilizing | 0.92 | D | 0.271 | neutral | None | None | None | None | N |
| A/G | 0.1557 | likely_benign | 0.1428 | benign | -0.254 | Destabilizing | 0.201 | N | 0.207 | neutral | N | 0.42430494 | None | None | N |
| A/H | 0.5435 | ambiguous | 0.545 | ambiguous | -0.235 | Destabilizing | 0.92 | D | 0.245 | neutral | None | None | None | None | N |
| A/I | 0.3744 | ambiguous | 0.3798 | ambiguous | -0.387 | Destabilizing | 0.447 | N | 0.304 | neutral | None | None | None | None | N |
| A/K | 0.4583 | ambiguous | 0.4439 | ambiguous | -0.651 | Destabilizing | 0.447 | N | 0.275 | neutral | None | None | None | None | N |
| A/L | 0.252 | likely_benign | 0.2548 | benign | -0.387 | Destabilizing | 0.447 | N | 0.261 | neutral | None | None | None | None | N |
| A/M | 0.2923 | likely_benign | 0.2811 | benign | -0.585 | Destabilizing | 0.92 | D | 0.211 | neutral | None | None | None | None | N |
| A/N | 0.2198 | likely_benign | 0.2108 | benign | -0.339 | Destabilizing | 0.447 | N | 0.319 | neutral | None | None | None | None | N |
| A/P | 0.2312 | likely_benign | 0.2314 | benign | -0.31 | Destabilizing | 0.896 | D | 0.305 | neutral | N | 0.439656767 | None | None | N |
| A/Q | 0.3277 | likely_benign | 0.3156 | benign | -0.61 | Destabilizing | 0.739 | D | 0.283 | neutral | None | None | None | None | N |
| A/R | 0.4423 | ambiguous | 0.4377 | ambiguous | -0.188 | Destabilizing | 0.85 | D | 0.277 | neutral | None | None | None | None | N |
| A/S | 0.0894 | likely_benign | 0.0848 | benign | -0.498 | Destabilizing | 0.016 | N | 0.115 | neutral | N | 0.363860382 | None | None | N |
| A/T | 0.0947 | likely_benign | 0.0942 | benign | -0.576 | Destabilizing | 0.007 | N | 0.063 | neutral | N | 0.384750379 | None | None | N |
| A/V | 0.1842 | likely_benign | 0.1846 | benign | -0.31 | Destabilizing | 0.016 | N | 0.145 | neutral | N | 0.41904863 | None | None | N |
| A/W | 0.855 | likely_pathogenic | 0.8577 | pathogenic | -1.016 | Destabilizing | 0.992 | D | 0.339 | neutral | None | None | None | None | N |
| A/Y | 0.6331 | likely_pathogenic | 0.6441 | pathogenic | -0.695 | Destabilizing | 0.972 | D | 0.265 | 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.