Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 25873 | 77842;77843;77844 | chr2:178568515;178568514;178568513 | chr2:179433242;179433241;179433240 |
| N2AB | 24232 | 72919;72920;72921 | chr2:178568515;178568514;178568513 | chr2:179433242;179433241;179433240 |
| N2A | 23305 | 70138;70139;70140 | chr2:178568515;178568514;178568513 | chr2:179433242;179433241;179433240 |
| N2B | 16808 | 50647;50648;50649 | chr2:178568515;178568514;178568513 | chr2:179433242;179433241;179433240 |
| Novex-1 | 16933 | 51022;51023;51024 | chr2:178568515;178568514;178568513 | chr2:179433242;179433241;179433240 |
| Novex-2 | 17000 | 51223;51224;51225 | chr2:178568515;178568514;178568513 | chr2:179433242;179433241;179433240 |
| 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/G | rs751402631  |
-1.325 | 0.027 | N | 0.469 | 0.179 | 0.38342384377 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 0 | 8.7E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| A/G | rs751402631 |
-1.325 | 0.027 | N | 0.469 | 0.179 | 0.38342384377 | gnomAD-4.0.0 | 4.7761E-06 | None | None | None | None | N | None | 0 | 6.86122E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/V | rs751402631 |
-0.502 | 0.002 | N | 0.306 | 0.173 | 0.406668915854 | gnomAD-2.1.1 | 2.42E-05 | None | None | None | None | N | None | 0 | 1.74054E-04 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| A/V | rs751402631 |
-0.502 | 0.002 | N | 0.306 | 0.173 | 0.406668915854 | gnomAD-4.0.0 | 9.55219E-06 | None | None | None | None | N | None | 0 | 1.37224E-04 | None | 0 | 0 | None | 0 | 0 | 0 | 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 | 0.3038 | likely_benign | 0.3014 | benign | -1.154 | Destabilizing | 0.824 | D | 0.545 | neutral | None | None | None | None | N |
| A/D | 0.3063 | likely_benign | 0.2989 | benign | -1.901 | Destabilizing | None | N | 0.449 | neutral | N | 0.500947126 | None | None | N |
| A/E | 0.2326 | likely_benign | 0.2285 | benign | -1.986 | Destabilizing | 0.081 | N | 0.485 | neutral | None | None | None | None | N |
| A/F | 0.278 | likely_benign | 0.2557 | benign | -1.39 | Destabilizing | 0.555 | D | 0.579 | neutral | None | None | None | None | N |
| A/G | 0.1416 | likely_benign | 0.1383 | benign | -1.165 | Destabilizing | 0.027 | N | 0.469 | neutral | N | 0.49482923 | None | None | N |
| A/H | 0.3489 | ambiguous | 0.3478 | ambiguous | -1.142 | Destabilizing | 0.824 | D | 0.531 | neutral | None | None | None | None | N |
| A/I | 0.1919 | likely_benign | 0.1721 | benign | -0.708 | Destabilizing | 0.081 | N | 0.493 | neutral | None | None | None | None | N |
| A/K | 0.3428 | ambiguous | 0.3317 | benign | -1.212 | Destabilizing | 0.081 | N | 0.493 | neutral | None | None | None | None | N |
| A/L | 0.1404 | likely_benign | 0.1334 | benign | -0.708 | Destabilizing | 0.081 | N | 0.475 | neutral | None | None | None | None | N |
| A/M | 0.159 | likely_benign | 0.1503 | benign | -0.531 | Destabilizing | 0.555 | D | 0.507 | neutral | None | None | None | None | N |
| A/N | 0.1986 | likely_benign | 0.1962 | benign | -1.028 | Destabilizing | 0.081 | N | 0.518 | neutral | None | None | None | None | N |
| A/P | 0.8978 | likely_pathogenic | 0.8895 | pathogenic | -0.77 | Destabilizing | 0.317 | N | 0.505 | neutral | N | 0.5093569 | None | None | N |
| A/Q | 0.2506 | likely_benign | 0.2519 | benign | -1.357 | Destabilizing | 0.38 | N | 0.523 | neutral | None | None | None | None | N |
| A/R | 0.3315 | likely_benign | 0.3198 | benign | -0.691 | Destabilizing | 0.38 | N | 0.523 | neutral | None | None | None | None | N |
| A/S | 0.0787 | likely_benign | 0.081 | benign | -1.24 | Destabilizing | None | N | 0.147 | neutral | N | 0.408516967 | None | None | N |
| A/T | 0.0666 | likely_benign | 0.0658 | benign | -1.259 | Destabilizing | 0.002 | N | 0.257 | neutral | N | 0.397625183 | None | None | N |
| A/V | 0.1125 | likely_benign | 0.1045 | benign | -0.77 | Destabilizing | 0.002 | N | 0.306 | neutral | N | 0.480033136 | None | None | N |
| A/W | 0.6531 | likely_pathogenic | 0.6323 | pathogenic | -1.593 | Destabilizing | 0.935 | D | 0.637 | neutral | None | None | None | None | N |
| A/Y | 0.367 | ambiguous | 0.3514 | ambiguous | -1.236 | Destabilizing | 0.555 | D | 0.564 | 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.