Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 1884 | 5875;5876;5877 | chr2:178776214;178776213;178776212 | chr2:179640941;179640940;179640939 |
| N2AB | 1884 | 5875;5876;5877 | chr2:178776214;178776213;178776212 | chr2:179640941;179640940;179640939 |
| N2A | 1884 | 5875;5876;5877 | chr2:178776214;178776213;178776212 | chr2:179640941;179640940;179640939 |
| N2B | 1838 | 5737;5738;5739 | chr2:178776214;178776213;178776212 | chr2:179640941;179640940;179640939 |
| Novex-1 | 1838 | 5737;5738;5739 | chr2:178776214;178776213;178776212 | chr2:179640941;179640940;179640939 |
| Novex-2 | 1838 | 5737;5738;5739 | chr2:178776214;178776213;178776212 | chr2:179640941;179640940;179640939 |
| Novex-3 | 1884 | 5875;5876;5877 | chr2:178776214;178776213;178776212 | chr2:179640941;179640940;179640939 |
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 | rs749151809  |
-0.181 | 0.999 | N | 0.585 | 0.22 | 0.137902524267 | gnomAD-2.1.1 | 1.19E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 9.8E-05 | None | 0 | 0 | 0 |
| S/N | rs749151809 |
-0.181 | 0.999 | N | 0.585 | 0.22 | 0.137902524267 | gnomAD-4.0.0 | 4.10444E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99303E-07 | 5.7967E-05 | 0 |
| S/T | rs749151809 |
-0.169 | 0.999 | N | 0.479 | 0.251 | 0.136095386433 | gnomAD-2.1.1 | 3.18E-05 | None | None | None | None | N | None | 1.14784E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| S/T | rs749151809 |
-0.169 | 0.999 | N | 0.479 | 0.251 | 0.136095386433 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 4.83E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| S/T | rs749151809 |
-0.169 | 0.999 | N | 0.479 | 0.251 | 0.136095386433 | gnomAD-4.0.0 | 1.85871E-06 | None | None | None | None | N | None | 2.66987E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 8.4745E-07 | 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 | 0.6308 | likely_pathogenic | 0.6263 | pathogenic | -0.348 | Destabilizing | 0.998 | D | 0.461 | neutral | None | None | None | None | N |
| S/C | 0.847 | likely_pathogenic | 0.8726 | pathogenic | -0.333 | Destabilizing | 1.0 | D | 0.737 | prob.delet. | D | 0.551804009 | None | None | N |
| S/D | 0.9876 | likely_pathogenic | 0.989 | pathogenic | 0.435 | Stabilizing | 0.999 | D | 0.609 | neutral | None | None | None | None | N |
| S/E | 0.9923 | likely_pathogenic | 0.9933 | pathogenic | 0.38 | Stabilizing | 0.999 | D | 0.604 | neutral | None | None | None | None | N |
| S/F | 0.9871 | likely_pathogenic | 0.9894 | pathogenic | -0.848 | Destabilizing | 1.0 | D | 0.769 | deleterious | None | None | None | None | N |
| S/G | 0.6883 | likely_pathogenic | 0.6955 | pathogenic | -0.497 | Destabilizing | 0.999 | D | 0.52 | neutral | N | 0.425091955 | None | None | N |
| S/H | 0.9709 | likely_pathogenic | 0.9754 | pathogenic | -0.822 | Destabilizing | 1.0 | D | 0.758 | deleterious | None | None | None | None | N |
| S/I | 0.9824 | likely_pathogenic | 0.9875 | pathogenic | -0.082 | Destabilizing | 1.0 | D | 0.739 | prob.delet. | D | 0.640637434 | None | None | N |
| S/K | 0.998 | likely_pathogenic | 0.9982 | pathogenic | -0.351 | Destabilizing | 0.999 | D | 0.601 | neutral | None | None | None | None | N |
| S/L | 0.9508 | likely_pathogenic | 0.9588 | pathogenic | -0.082 | Destabilizing | 1.0 | D | 0.696 | prob.neutral | None | None | None | None | N |
| S/M | 0.9532 | likely_pathogenic | 0.9629 | pathogenic | -0.121 | Destabilizing | 1.0 | D | 0.758 | deleterious | None | None | None | None | N |
| S/N | 0.8988 | likely_pathogenic | 0.9115 | pathogenic | -0.193 | Destabilizing | 0.999 | D | 0.585 | neutral | N | 0.420420654 | None | None | N |
| S/P | 0.993 | likely_pathogenic | 0.9947 | pathogenic | -0.14 | Destabilizing | 1.0 | D | 0.723 | prob.delet. | None | None | None | None | N |
| S/Q | 0.9836 | likely_pathogenic | 0.9859 | pathogenic | -0.318 | Destabilizing | 1.0 | D | 0.723 | prob.delet. | None | None | None | None | N |
| S/R | 0.9978 | likely_pathogenic | 0.9978 | pathogenic | -0.189 | Destabilizing | 1.0 | D | 0.717 | prob.delet. | N | 0.504794898 | None | None | N |
| S/T | 0.6474 | likely_pathogenic | 0.7137 | pathogenic | -0.278 | Destabilizing | 0.999 | D | 0.479 | neutral | N | 0.430897274 | None | None | N |
| S/V | 0.9721 | likely_pathogenic | 0.9792 | pathogenic | -0.14 | Destabilizing | 1.0 | D | 0.741 | deleterious | None | None | None | None | N |
| S/W | 0.9812 | likely_pathogenic | 0.9844 | pathogenic | -0.901 | Destabilizing | 1.0 | D | 0.786 | deleterious | None | None | None | None | N |
| S/Y | 0.9736 | likely_pathogenic | 0.9781 | pathogenic | -0.589 | Destabilizing | 1.0 | D | 0.775 | 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.