Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2679 | 8260;8261;8262 | chr2:178771292;178771291;178771290 | chr2:179636019;179636018;179636017 |
| N2AB | 2679 | 8260;8261;8262 | chr2:178771292;178771291;178771290 | chr2:179636019;179636018;179636017 |
| N2A | 2679 | 8260;8261;8262 | chr2:178771292;178771291;178771290 | chr2:179636019;179636018;179636017 |
| N2B | 2633 | 8122;8123;8124 | chr2:178771292;178771291;178771290 | chr2:179636019;179636018;179636017 |
| Novex-1 | 2633 | 8122;8123;8124 | chr2:178771292;178771291;178771290 | chr2:179636019;179636018;179636017 |
| Novex-2 | 2633 | 8122;8123;8124 | chr2:178771292;178771291;178771290 | chr2:179636019;179636018;179636017 |
| Novex-3 | 2679 | 8260;8261;8262 | chr2:178771292;178771291;178771290 | chr2:179636019;179636018;179636017 |
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 | rs762303238  |
-0.788 | 0.001 | N | 0.103 | 0.1 | 0.191931220699 | gnomAD-2.1.1 | 7.96E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 9.24E-05 | 0 | 0 |
| A/T | rs762303238 |
-0.788 | 0.001 | N | 0.103 | 0.1 | 0.191931220699 | gnomAD-4.0.0 | 6.36236E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.76378E-05 | 0 | 5.71314E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.4183 | ambiguous | 0.4343 | ambiguous | -1.026 | Destabilizing | 0.356 | N | 0.413 | neutral | None | None | None | None | N |
| A/D | 0.1546 | likely_benign | 0.1632 | benign | -1.494 | Destabilizing | None | N | 0.231 | neutral | N | 0.483920002 | None | None | N |
| A/E | 0.1292 | likely_benign | 0.1282 | benign | -1.594 | Destabilizing | 0.016 | N | 0.417 | neutral | None | None | None | None | N |
| A/F | 0.2253 | likely_benign | 0.2417 | benign | -1.279 | Destabilizing | 0.214 | N | 0.495 | neutral | None | None | None | None | N |
| A/G | 0.1176 | likely_benign | 0.117 | benign | -1.058 | Destabilizing | 0.024 | N | 0.296 | neutral | N | 0.512649789 | None | None | N |
| A/H | 0.2721 | likely_benign | 0.2693 | benign | -1.009 | Destabilizing | 0.628 | D | 0.465 | neutral | None | None | None | None | N |
| A/I | 0.1496 | likely_benign | 0.1711 | benign | -0.642 | Destabilizing | 0.001 | N | 0.154 | neutral | None | None | None | None | N |
| A/K | 0.1978 | likely_benign | 0.19 | benign | -1.128 | Destabilizing | 0.072 | N | 0.434 | neutral | None | None | None | None | N |
| A/L | 0.1151 | likely_benign | 0.12 | benign | -0.642 | Destabilizing | 0.007 | N | 0.33 | neutral | None | None | None | None | N |
| A/M | 0.1681 | likely_benign | 0.1793 | benign | -0.452 | Destabilizing | 0.214 | N | 0.435 | neutral | None | None | None | None | N |
| A/N | 0.1665 | likely_benign | 0.1745 | benign | -0.87 | Destabilizing | 0.072 | N | 0.459 | neutral | None | None | None | None | N |
| A/P | 0.1038 | likely_benign | 0.1038 | benign | -0.691 | Destabilizing | None | N | 0.132 | neutral | N | 0.46607014 | None | None | N |
| A/Q | 0.1892 | likely_benign | 0.1821 | benign | -1.196 | Destabilizing | 0.356 | N | 0.457 | neutral | None | None | None | None | N |
| A/R | 0.1954 | likely_benign | 0.1815 | benign | -0.584 | Destabilizing | 0.356 | N | 0.458 | neutral | None | None | None | None | N |
| A/S | 0.0854 | likely_benign | 0.0849 | benign | -1.121 | Destabilizing | 0.012 | N | 0.329 | neutral | N | 0.427946755 | None | None | N |
| A/T | 0.0735 | likely_benign | 0.0758 | benign | -1.151 | Destabilizing | 0.001 | N | 0.103 | neutral | N | 0.451106007 | None | None | N |
| A/V | 0.0927 | likely_benign | 0.0985 | benign | -0.691 | Destabilizing | None | N | 0.106 | neutral | N | 0.453311486 | None | None | N |
| A/W | 0.5496 | ambiguous | 0.5588 | ambiguous | -1.457 | Destabilizing | 0.864 | D | 0.506 | neutral | None | None | None | None | N |
| A/Y | 0.3206 | likely_benign | 0.3364 | benign | -1.113 | Destabilizing | 0.356 | N | 0.486 | 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.