Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
---|---|---|---|---|
IC | 1102 | 3529;3530;3531 | chr2:178782288;178782287;178782286 | chr2:179647015;179647014;179647013 |
N2AB | 1102 | 3529;3530;3531 | chr2:178782288;178782287;178782286 | chr2:179647015;179647014;179647013 |
N2A | 1102 | 3529;3530;3531 | chr2:178782288;178782287;178782286 | chr2:179647015;179647014;179647013 |
N2B | 1056 | 3391;3392;3393 | chr2:178782288;178782287;178782286 | chr2:179647015;179647014;179647013 |
Novex-1 | 1056 | 3391;3392;3393 | chr2:178782288;178782287;178782286 | chr2:179647015;179647014;179647013 |
Novex-2 | 1056 | 3391;3392;3393 | chr2:178782288;178782287;178782286 | chr2:179647015;179647014;179647013 |
Novex-3 | 1102 | 3529;3530;3531 | chr2:178782288;178782287;178782286 | chr2:179647015;179647014;179647013 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
G/R | rs1016142990 | None | 0.017 | N | 0.46 | 0.161 | 0.62384306378 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 0 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
G/R | rs1016142990 | None | 0.017 | N | 0.46 | 0.161 | 0.62384306378 | gnomAD-4.0.0 | 5.12184E-06 | None | None | None | None | I | None | 1.68776E-05 | 5.08233E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
G/A | 0.0685 | likely_benign | 0.0702 | benign | -0.663 | Destabilizing | 0.003 | N | 0.327 | neutral | N | 0.397367865 | None | None | I |
G/C | 0.1819 | likely_benign | 0.1802 | benign | -0.806 | Destabilizing | 0.55 | D | 0.495 | neutral | None | None | None | None | I |
G/D | 0.1436 | likely_benign | 0.1541 | benign | -1.553 | Destabilizing | None | N | 0.247 | neutral | None | None | None | None | I |
G/E | 0.0694 | likely_benign | 0.0714 | benign | -1.515 | Destabilizing | None | N | 0.289 | neutral | N | 0.289434122 | None | None | I |
G/F | 0.3861 | ambiguous | 0.3987 | ambiguous | -0.817 | Destabilizing | 0.138 | N | 0.573 | neutral | None | None | None | None | I |
G/H | 0.2184 | likely_benign | 0.2271 | benign | -1.693 | Destabilizing | None | N | 0.355 | neutral | None | None | None | None | I |
G/I | 0.0994 | likely_benign | 0.0986 | benign | 0.065 | Stabilizing | 0.003 | N | 0.411 | neutral | None | None | None | None | I |
G/K | 0.2344 | likely_benign | 0.2331 | benign | -1.233 | Destabilizing | 0.009 | N | 0.424 | neutral | None | None | None | None | I |
G/L | 0.1666 | likely_benign | 0.166 | benign | 0.065 | Stabilizing | 0.009 | N | 0.429 | neutral | None | None | None | None | I |
G/M | 0.2188 | likely_benign | 0.2235 | benign | 0.037 | Stabilizing | 0.138 | N | 0.505 | neutral | None | None | None | None | I |
G/N | 0.1765 | likely_benign | 0.1851 | benign | -1.042 | Destabilizing | 0.009 | N | 0.324 | neutral | None | None | None | None | I |
G/P | 0.7275 | likely_pathogenic | 0.7431 | pathogenic | -0.133 | Destabilizing | 0.085 | N | 0.475 | neutral | None | None | None | None | I |
G/Q | 0.129 | likely_benign | 0.1347 | benign | -1.069 | Destabilizing | 0.022 | N | 0.429 | neutral | None | None | None | None | I |
G/R | 0.1766 | likely_benign | 0.18 | benign | -1.147 | Destabilizing | 0.017 | N | 0.46 | neutral | N | 0.297969803 | None | None | I |
G/S | 0.0711 | likely_benign | 0.0755 | benign | -1.32 | Destabilizing | 0.009 | N | 0.335 | neutral | None | None | None | None | I |
G/T | 0.072 | likely_benign | 0.0742 | benign | -1.189 | Destabilizing | 0.018 | N | 0.399 | neutral | None | None | None | None | I |
G/V | 0.0693 | likely_benign | 0.0707 | benign | -0.133 | Destabilizing | None | N | 0.431 | neutral | N | 0.381210143 | None | None | I |
G/W | 0.3239 | likely_benign | 0.3249 | benign | -1.437 | Destabilizing | 0.788 | D | 0.513 | neutral | None | None | None | None | I |
G/Y | 0.312 | likely_benign | 0.3218 | benign | -0.904 | Destabilizing | 0.044 | N | 0.529 | neutral | None | None | None | None | I |
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.